A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674379



Internal ID9593798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1371558..1371709hg38UCSC Ensembl
Outerchr12:1371521..1371759hg38UCSC Ensembl
Innerchr12:1480724..1480875hg19UCSC Ensembl
Outerchr12:1480687..1480925hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6528110, essv6099745, essv5421727, essv6325583, essv5630785, essv6005377, essv5498297, essv5702113, essv5414464, essv6349747, essv5475702, essv6584677, essv5687951, essv6516791, essv6557455, essv5825947, essv5802374, essv6240249, essv6327045, essv5396596, essv5454769, essv5849284
SamplesHG01441, HG00536, HG00707, HG00475, HG00542, NA18546, HG01047, NA18638, HG00125, NA19380, NA19375, NA19393, HG00325, HG00478, NA18606, NA18543, HG00663, HG01390, HG00708, HG01108, NA18549, HG01377
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674379
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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