A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672320



Internal ID9591739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1256410..1257203hg38UCSC Ensembl
chr12:1365576..1366369hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38794
hg19794
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672320
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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