A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2672908

Internal ID9592327
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32290121..32290226hg38UCSC Ensembl
chr12:32443055..32443160hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5451820, essv5858224, essv6356236, essv5880035, essv6403449, essv5714341, essv5905637, essv5610759, essv6531812, essv5775066, essv6014168, essv6510637, essv5767762, essv5606532, essv5723486, essv5993845, essv6276339, essv6417394, essv5553868, essv5720489, essv6295474, essv6351358, essv6434034, essv6365306, essv5785832, essv6337647, essv6117679, essv6278427, essv5645593, essv6196204, essv5449891, essv5516072, essv5688777, essv6330874, essv5552119, essv5925938, essv6577469, essv6102154, essv6421390, essv5739721, essv6082108, essv6503497, essv6525175, essv6164322, essv5697783, essv6293193, essv5831514, essv6185282, essv6202902, essv5946459, essv6511639, essv6079812, essv6158537, essv5659093, essv6157107, essv6108232, essv6230796, essv6399314, essv6414710, essv6024674, essv5994704, essv5674387, essv6200350, essv5586190, essv6584230, essv5576313, essv5999562, essv6119304, essv5542034, essv5497201, essv5479405, essv6553365, essv6384469, essv5713326, essv5418137, essv6043173, essv5930544, essv5606205, essv6361063, essv5586941, essv5620261, essv6001362, essv6511918, essv5809726, essv6238341, essv5844118, essv6593696, essv5911593, essv6211771, essv5924932, essv6093765, essv5691037, essv6015957, essv5425626, essv5799010, essv6150714, essv6491264, essv6346060, essv6074485, essv5618122, essv6495128, essv5490162, essv5547519, essv5503233, essv5580929, essv6257054, essv5440749, essv6175029, essv5817893, essv6078228, essv6087495, essv5660737, essv5963245, essv5780500, essv6531272, essv6086940, essv6155968, essv6193093, essv5731928, essv5448029, essv6556132, essv5769505
SamplesNA11881, HG00309, NA12043, NA18605, NA20787, NA18520, HG00344, HG01353, NA12342, NA18523, HG00705, HG00437, HG00500, NA11920, HG00245, NA19093, NA18570, NA19072, HG00261, NA18545, HG01389, NA18948, HG00463, HG01365, HG00117, HG01082, NA18953, NA20816, NA12828, NA18947, NA18546, NA20588, NA19651, HG00651, NA19108, HG00146, NA18488, NA19776, HG00479, NA18949, NA18632, HG00556, NA19428, NA20585, NA19383, NA19054, NA20819, HG00421, NA20811, NA12155, NA18623, NA19471, NA18617, NA19083, HG00330, NA12761, NA18638, NA19398, NA19066, NA18609, HG00419, HG00258, NA12829, NA11894, NA18973, NA19835, HG00276, NA20589, HG00662, NA19055, HG00620, HG01111, HG01097, NA18572, NA19374, NA19703, HG01066, HG00263, NA06986, NA19005, HG00260, NA20540, HG01356, NA20818, NA18942, HG01494, NA18988, HG00512, NA18579, NA18945, NA19235, HG00427, NA19921, NA20756, HG00443, NA18599, NA18909, NA12749, NA12156, NA12889, NA18560, NA18989, NA18602, HG00654, NA20507, NA18533, HG00708, NA18610, HG00693, NA18611, NA20768, HG00275, HG00324, HG01374, NA19079, HG00476, NA19092, HG00702, NA18555, NA18519, HG01067, HG00312
Known GenesBICD1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2672908
Sample Size1151
Observed Gain0
Observed Loss122
Observed Complex0

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