A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2672320

Internal ID9591739
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1256410..1257203hg38UCSC Ensembl
chr12:1365576..1366369hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5969499, essv6194024, essv6315851, essv5921000, essv5980707, essv5451235, essv5717290, essv6045615, essv6446062, essv6312469, essv6072896, essv6501184, essv5656658, essv5480240, essv5699440, essv5408952, essv5757566, essv5631494, essv5754158, essv6538261, essv5942531, essv5510004, essv6354013, essv6561933, essv5592613, essv6534893, essv5521067, essv5631546, essv5630835, essv5981030, essv6477671, essv5689534, essv5848546, essv5531216, essv6268832, essv5437624, essv6162827, essv6206406, essv5405064, essv6567095, essv6513227, essv5528062, essv6499745, essv5397524, essv5812655, essv5518105, essv6175582, essv6520447, essv6578907, essv5470045, essv6014328, essv5568528, essv5979889, essv6084390, essv6167662, essv6187979, essv6530094, essv6162474, essv6094816, essv6235236, essv6555250, essv6466387, essv5850264, essv5819274, essv5691501, essv6301036, essv6049712, essv5618633, essv5568598, essv5700584, essv6346513, essv5484982, essv6197124, essv6412294, essv6450271, essv5726278, essv5418561
SamplesNA18621, HG00536, HG00607, NA19904, NA18535, NA18561, NA19437, HG01342, HG00171, NA18612, HG00131, NA19223, HG01079, HG01389, NA18953, NA19451, HG01491, NA18608, NA20778, HG00139, NA18546, HG00683, HG00187, NA19257, NA19108, NA19472, HG01171, NA18949, NA19438, NA19077, NA18912, NA18622, NA19471, NA20757, NA18990, HG00692, HG01183, NA18636, HG01124, NA20127, NA19056, NA19457, NA18620, NA18633, NA19374, NA19703, NA19373, NA20795, NA18558, NA18941, HG01069, HG00478, HG00513, NA18562, NA19074, NA19318, NA18543, NA10851, NA19391, NA19723, NA19116, HG00262, HG00654, HG01390, NA19452, NA18944, HG00656, HG01366, NA18499, NA20758, NA18532, NA18549, HG00671, HG00345, HG00704, NA18555, NA18519
Known GenesERC1
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2672320
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0

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