3q29 microdeletion |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37437
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Region
Description:
DELETION INFO:
ISCA P Value: 0.0147 EICHLER P Value: 0.0785
OMIM: #609425
SEG DUP mediated: Yes
REFS: Reference 1: Willatt, et al., Am J Hum Genet. 77:154-160, 2005; PMID: 15918153 PMCID: PMC1226188
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
GRCh37/hg19 chr3:195756054-197344665 (NC_000003.11)