A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672908



Internal ID9592327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32290121..32290226hg38UCSC Ensembl
chr12:32443055..32443160hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38106
hg19106
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672908
Frequency
Sample Size1151
Observed Gain0
Observed Loss122
Observed Complex0
Frequencyn/a


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