Variant Details

Variant: esv34038

Internal ID

12971601

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:118113969..118534236	hg38	UCSC Ensembl
Inner	chr4:119035124..119455391	hg19	UCSC Ensembl
Inner	chr4:119254572..119674839	hg18	UCSC Ensembl

Cytoband

4q26

Allele length

Assembly	Allele length
hg38	420268
hg19	420268
hg18	420268

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6990686

Samples

Known Genes

CEP170P1, NDST3, PRSS12, SNHG8, SNORA24

Method

SNP array

Analysis

We further explored the discovery of segmental deletions in the Kosraean population data where IBD is more prevalent, and we observe a larger number of gaps.We used a binomial score to rank potential deletions in homozygous gaps based on the number of mismatching SNPs and the rate of mismatch in the flanking shared segments, measured across all shared segments with the suspected gap. To prioritize the segmental gaps that were most likely to be representative of a deletion, we developed a scoring function based on the number of mismatching SNPs and levels of homozygosity in the gap.

Platform

Not reported

Comments

Reference

Gusev_et_al_2009

Pubmed ID

18971310

Accession Number(s)

esv34038

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	0
Observed Complex	0
Frequency	n/a