A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2675259

Internal ID9594678
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243262053..243262349hg38UCSC Ensembl
chr1:243425355..243425651hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6330777, essv5617335, essv6524127, essv6086627, essv5529975, essv6118617, essv6041517, essv5793965, essv5477254, essv5539632, essv6337851, essv6282489, essv5676124, essv6511969, essv6026958, essv6053702, essv5768965, essv5728491, essv6103967, essv6042782, essv6050885, essv5486150, essv5437829, essv5739332, essv6273043, essv5412751, essv5562599, essv6096991, essv6515095, essv6363192, essv6465618, essv6152511, essv5552225, essv5453748, essv5688557, essv6446157, essv5865548, essv6055868, essv5855467, essv6546346, essv5649160, essv5453870, essv6540033, essv6188954, essv6456018, essv6094134, essv5746493, essv5645884, essv6381641, essv5940465, essv5632243, essv6273876, essv5821397, essv6500666, essv5904790, essv5734658, essv6246345, essv6167190, essv6037809, essv6368593, essv5420442, essv6427115, essv6172293, essv5867131, essv6297400
SamplesHG00613, NA18621, HG00607, NA11930, HG00182, HG00344, HG01052, HG00328, NA20516, HG01083, HG00274, NA12347, NA20796, NA11918, HG00310, HG00261, NA18545, HG01365, HG00428, NA18542, HG00139, HG01188, HG00111, NA07051, HG00335, HG01107, HG00321, HG00339, NA20585, HG00337, HG00140, NA18990, HG00315, HG00338, NA20520, NA19773, HG00237, HG00662, HG00233, HG01066, NA19393, HG00629, NA20540, HG00672, HG00273, HG00232, HG00478, HG01351, NA18613, HG00329, NA18582, NA18597, NA12889, HG00448, NA18602, HG00285, HG00656, NA12842, HG00422, NA18574, NA19079, HG00476, HG00278, HG01067, HG00327
Known GenesSDCCAG8
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2675259
Sample Size1151
Observed Gain0
Observed Loss65
Observed Complex0

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