Variant Details

Variant: esv3629775

Internal ID

7016596

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:64623695..64624716	hg38	UCSC Ensembl
Inner	chr12:64623696..64624715	hg38	UCSC Ensembl
Outer	chr12:64623694..64624717	hg38	UCSC Ensembl
	chr12:65017475..65018496	hg19	UCSC Ensembl
Inner	chr12:65017476..65018495	hg19	UCSC Ensembl
Outer	chr12:65017474..65018497	hg19	UCSC Ensembl

Cytoband

12q14.2

Allele length

Assembly	Allele length
hg38	1022
hg19	1022

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14514598, essv14514611, essv14514619, essv14514591, essv14514595, essv14514587, essv14514626, essv14514599, essv14514605, essv14514624, essv14514627, essv14514621, essv14514618, essv14514603, essv14514584, essv14514593, essv14514588, essv14514594, essv14514592, essv14514604, essv14514586, essv14514613, essv14514614, essv14514607, essv14514612, essv14514597, essv14514590, essv14514620, essv14514615, essv14514625, essv14514585, essv14514617, essv14514601, essv14514606, essv14514623, essv14514608, essv14514602, essv14514583, essv14514589, essv14514600, essv14514609, essv14514596, essv14514610, essv14514622, essv14514616

Samples

NA18502, NA19704, NA18507, NA19020, HG02012, NA18486, NA19393, HG03126, NA20346, NA18870, NA19319, NA18489, NA19198, HG02642, HG02471, NA19239, HG02545, HG03169, HG02570, NA19908, HG03088, NA19391, HG02144, HG02014, HG03136, HG02445, NA19099, HG03451, HG02666, NA19160, NA18858, HG01990, NA20296, HG02255, HG03028, NA19440, NA18865, HG02941, NA20357, NA19143, NA19223, HG03313, NA19713, HG03060, NA18522

Known Genes

RASSF3

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3629775

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	45
Observed Complex	0
Frequency	n/a