A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677200



Internal ID9943305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237565910..237566072hg38UCSC Ensembl
Outerchr2:237565873..237566122hg38UCSC Ensembl
Innerchr2:238474553..238474715hg19UCSC Ensembl
Outerchr2:238474516..238474765hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6488048, essv5606958, essv5792807, essv6061798, essv5537716, essv6026527, essv5488735, essv6280789, essv5447725, essv5438862, essv5431188, essv6355593, essv6482872, essv6332388, essv5480202, essv6040373, essv5948875, essv5530472, essv5967938, essv5593814, essv6207746, essv5950741, essv5965121, essv6339732, essv5420674, essv5811249, essv5660576, essv6338517, essv6391869, essv5801437, essv6415375, essv5788355, essv6346273, essv6268441, essv5478617, essv6514511, essv6571034, essv5631489, essv5409610, essv5497081, essv5632349, essv5520536, essv5479132
SamplesNA19394, NA12717, HG00524, NA18599, NA18486, NA18606, NA18870, NA18526, NA18510, NA18563, HG01350, NA18940, HG00589, NA18595, HG00689, HG00448, NA19138, NA19383, HG00705, NA18605, NA19663, NA18516, HG00533, NA18572, NA18534, HG01390, HG00331, NA18499, HG00684, NA19257, HG00276, HG00463, NA18546, NA19401, HG01174, HG00607, HG00418, HG00614, HG00513, NA19093, NA18636, NA18623, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677200
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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