A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664852



Internal ID9930957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:43583213..43585519hg38UCSC Ensembl
Outerchr12:43582842..43585889hg38UCSC Ensembl
Innerchr12:43977016..43979322hg19UCSC Ensembl
Outerchr12:43976645..43979692hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6135185, essv5872114, essv5712461, essv5936950, essv6149401, essv5686599, essv6581440, essv5979372, essv5933850, essv5431289, essv5415487, essv6049847, essv5504805, essv6438380, essv5591660, essv6435190, essv5692915, essv6367675, essv6094045, essv6555472, essv5566141, essv5597360, essv6349463, essv6148581, essv5509681, essv6512592, essv5467054, essv6469830, essv6388113, essv6568966, essv5674949, essv5845397, essv6060325, essv5998675, essv5586596, essv6238462, essv5841684, essv5794565, essv5431489, essv5484077, essv6552779, essv6454434, essv6330507, essv5402607, essv5925543, essv5670210, essv6128502, essv5509849, essv5617493, essv5398458, essv5565945, essv5548126, essv5888115, essv6138446, essv5929300, essv6147883, essv5606777, essv5478678, essv5965369, essv5496189, essv6423643, essv6343807, essv6438823, essv5783779, essv5843502, essv5596614, essv6292130, essv5931227, essv5648881, essv5487257, essv6157148, essv5784032, essv6158853, essv6543704, essv5577487, essv5881731, essv6365419, essv6042450, essv5474599, essv5678539, essv5792283, essv5462152, essv6192367, essv6535110, essv5554787, essv6225583, essv5572589, essv6365797, essv6275517, essv6143190, essv6505510, essv5897339, essv5757055, essv6283270, essv6442574, essv5794651, essv6046889, essv5398137, essv6247731, essv6430999, essv5624462, essv5748831, essv5636727, essv5450354, essv6245727, essv6314973, essv6429858, essv6033092, essv5656809, essv5478357
SamplesNA20588, HG01060, HG01173, NA20529, NA20543, HG01052, HG01079, NA20514, HG01188, NA20531, HG01066, NA20752, NA20802, NA20532, HG00640, HG00737, NA20808, NA20517, NA20507, HG01051, NA20771, NA20806, HG00641, HG01070, NA20798, NA20586, NA20774, HG01168, NA20756, NA20795, HG00736, NA20768, NA20540, HG01083, NA20513, NA20541, NA20539, HG01069, HG01080, HG01067, HG01170, NA20812, HG01072, HG01198, HG01048, NA20757, NA20515, NA20755, NA20753, HG01183, NA20535, HG00731, NA20800, HG01171, NA20524, NA20505, HG00732, NA20521, HG01095, NA20810, NA20760, NA20506, NA20519, NA20770, HG00740, HG01047, NA20525, HG01102, HG01073, HG01197, NA20538, HG01101, NA20828, NA20542, HG01107, HG01204, HG01075, NA20765, NA20526, NA20799, NA20522, NA20801, HG01190, HG00734, NA20520, HG01174, NA20790, NA20530, NA20527, NA20792, NA20778, NA20504, NA20544, NA20516, HG01108, NA20797, NA20582, HG01055, NA20510, NA20528, NA20503, NA20502, HG01082, NA20585, HG01097, HG01191, NA20754, HG01061, HG00553, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664852
Frequency
Sample Size1151
Observed Gain0
Observed Loss110
Observed Complex0
Frequencyn/a


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