A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657297



Internal ID9923402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88832903..89190934hg38UCSC Ensembl
Outerchr2:88832532..89191304hg38UCSC Ensembl
Innerchr2:89132416..89490422hg19UCSC Ensembl
Outerchr2:89132045..89490792hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38358773
hg19358748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv6009837, essv6591004, essv5512431, essv5657498, essv6487555, essv5572797, essv5463177, essv6422098, essv6558755, essv6340765, essv5447269, essv6128345, essv6089391, essv6293887, essv6391458, essv6244805, essv6553558, essv5583062, essv6145690, essv5489938, essv6102661, essv5456033, essv5425440, essv5868257, essv5911027, essv6424039, essv5640812, essv5823070, essv5680303, essv5702143, essv6264446, essv6567591, essv6570127, essv5758173, essv5603678, essv6265074, essv6524299, essv6289156, essv5938551, essv6107723, essv6235152, essv5535294, essv5466783, essv6098332, essv6589924, essv5718759, essv6195350
SamplesHG01441, HG01356, HG01462, HG01359, HG01389, HG01374, HG01456, HG01461, HG01140, HG01250, HG01350, HG01366, HG01351, HG01488, HG01492, HG01354, HG01365, HG01134, HG01455, HG01495, HG01440, HG01550, HG01124, HG01353, HG01136, HG01360, HG01384, HG01498, HG01149, HG01390, HG01383, HG01497, HG01551, HG01253, HG01494, HG01113, HG01137, HG01489, HG01342, HG01491, HG01254, HG01251, HG01377, HG01378, HG01125, HG01112, HG01437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657297
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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