A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2670312

Internal ID9589731
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128499519..128999613hg38UCSC Ensembl
chr7:128139573..128639667hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5459587, essv6017238, essv6084269, essv5549674, essv5846160, essv5962547, essv6142563, essv6043503, essv6199617, essv5572843, essv6510092, essv6441505, essv5863495, essv6128909, essv6504695, essv6518714, essv5946759, essv6071038, essv6326650, essv6254141, essv5456654, essv6337003, essv5912425, essv6488029, essv6340453, essv6598231, essv5519842, essv6497785, essv6346771, essv6235239, essv6596153, essv6027006, essv5889428, essv6593141, essv6090860, essv5924085, essv5907722, essv5448280, essv5936644, essv6131720, essv5731896, essv6390550, essv5462249, essv5594750, essv5626300, essv5916805, essv6406786, essv5661209, essv5534742, essv5722412, essv5633349, essv5624786, essv5516022, essv5557137, essv5841029, essv5763969, essv5535984, essv6420733, essv6394423, essv6079311, essv5726014, essv5549966, essv6507483, essv6171066, essv6531247, essv6386291, essv5508369, essv5734652, essv6198589, essv6363165, essv6414768, essv6294007, essv6049251, essv5777843, essv6447426, essv5555942, essv6371764, essv5417337, essv5802274, essv5897032, essv6009562, essv5459583, essv6191061, essv5655540, essv6027977
SamplesHG01357, NA19012, HG00152, HG00734, NA18951, HG01353, HG01052, NA18561, NA19114, HG01342, HG00464, NA19783, HG00310, NA19003, NA19072, NA18511, NA12340, NA20296, NA18948, HG00428, HG00326, NA19782, HG01350, HG00698, HG01461, NA19472, NA18943, NA18949, NA18868, NA18632, NA11919, NA19068, NA19675, NA07357, NA19471, NA18617, HG00689, NA18636, NA18637, NA18973, NA18916, NA19056, HG00276, HG00133, HG00662, NA18539, NA19213, NA19676, HG00653, NA20536, HG00268, NA19005, NA20344, NA18558, HG00501, NA19347, NA20582, HG01070, NA19789, NA19235, NA10851, HG01095, NA18599, NA19723, HG00663, NA18560, NA12003, NA19770, NA19749, HG00656, HG00422, HG01251, NA12045, HG00693, HG00566, HG01125, HG00690, HG01374, HG00684, HG01377, NA18615, NA19758, HG00671, HG00126, NA19746
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2670312
Sample Size1151
Observed Gain0
Observed Loss85
Observed Complex0

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