A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638365



Internal ID6678463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29545957..29566985hg38UCSC Ensembl
Innerchr16:29545957..29566985hg38UCSC Ensembl
Outerchr16:29545457..29567485hg38UCSC Ensembl
chr16:29557278..29578306hg19UCSC Ensembl
Innerchr16:29557278..29578306hg19UCSC Ensembl
Outerchr16:29556778..29578806hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3821029
hg1921029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441670, essv15441652, essv15441644, essv15441693, essv15441653, essv15441690, essv15441669, essv15441673, essv15441659, essv15441683, essv15441676, essv15441691, essv15441682, essv15441660, essv15441688, essv15441657, essv15441647, essv15441654, essv15441686, essv15441677, essv15441681, essv15441646, essv15441662, essv15441692, essv15441664, essv15441661, essv15441655, essv15441665, essv15441684, essv15441674, essv15441658, essv15441678, essv15441667, essv15441656, essv15441680, essv15441645, essv15441650, essv15441663, essv15441651, essv15441695, essv15441689, essv15441687, essv15441675, essv15441648, essv15441685, essv15441649, essv15441666, essv15441694, essv15441679, essv15441668, essv15441671, essv15441672
SamplesNA19222, HG01965, HG02002, HG01438, HG01961, NA19332, HG02275, HG01970, HG02323, NA20294, HG03455, NA19777, HG02285, HG01997, HG01968, HG01459, HG01083, NA19038, HG02252, NA19189, HG02104, HG02260, NA19025, HG02345, HG02090, NA19043, NA19982, HG02102, HG01323, HG02008, HG02309, HG01921, NA19740, NA19682, HG02568, HG01204, HG01896, HG01977, HG01375, HG01933, NA19741, HG02147, HG02768, HG01269, HG01111, NA19463, HG01886, HG02006, HG01923, NA19214, HG01618, HG01926
Known GenesLOC440354
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638365
Frequency
Sample Size2504
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer