A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666635



Internal ID9586054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515699..76534405hg38UCSC Ensembl
Outerchr7:76515228..76534775hg38UCSC Ensembl
Innerchr7:76145016..76163722hg19UCSC Ensembl
Outerchr7:76144545..76164092hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819548
hg1919548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818812, essv5556565, essv5425061, essv5505361, essv5861774, essv5704065, essv5735932, essv6107806, essv5620032, essv6206795, essv6589567, essv6002039, essv6533392, essv6153912, essv5873790, essv6548596, essv6136437, essv5503800, essv5410010, essv5943705, essv5764450, essv6590552, essv6174401, essv5842466, essv5591047, essv5920158, essv5399848, essv6506432, essv5906685, essv6076730, essv5991857, essv6398722, essv6468772, essv6511886, essv6395885, essv6580482, essv5489799, essv5615076, essv6186931, essv5634879, essv5740247, essv6335786, essv6389630, essv6389073, essv5566547, essv6102818, essv6088260, essv6477552, essv6073720, essv6100782, essv5909518, essv6407755, essv5535978, essv6237381, essv5714549, essv6484750, essv6304030, essv6013169, essv6576014, essv5919531, essv5974585, essv5711586, essv6337601, essv5970999, essv5770179, essv5949929, essv5885169, essv5442128, essv6212456, essv6312207, essv6180681, essv5945759, essv5535252, essv6381697, essv6336979, essv5616803, essv6530482, essv6275850, essv6149296, essv6235300, essv5575966, essv6121575, essv5667938, essv5561070, essv6457294, essv6539146, essv6133096, essv5505095, essv5653034, essv5980668, essv5845470, essv5912902, essv5658617, essv5728015, essv6409119, essv5421525, essv5606901, essv5674225, essv6132274, essv5618383
SamplesHG00323, HG00309, HG00313, HG00182, NA20522, NA20503, NA20526, HG00344, NA20785, NA20506, HG00328, NA20752, HG00171, HG00369, NA20510, HG00274, HG00186, NA20544, HG00189, NA20808, NA20800, NA20816, HG00375, HG00368, HG00173, HG00326, NA20778, HG00190, NA20588, HG00280, HG00335, HG00366, HG00177, HG00331, HG00319, NA20803, HG00188, HG00353, HG00266, HG00321, NA20505, NA20585, HG00346, HG00180, NA20504, NA20757, NA20530, NA20783, HG00372, NA20801, HG00330, NA20541, NA20765, NA20520, HG00174, HG00284, NA20589, NA20769, HG00306, HG00373, HG00267, NA20512, HG00325, HG00185, NA20795, NA20826, NA20753, HG00176, HG00273, HG00277, NA20828, NA20815, NA20797, NA20582, NA20813, NA20534, HG00181, NA20518, NA20509, NA20507, NA20810, HG00285, NA20812, NA20543, HG00367, NA20792, HG00320, HG00275, HG00324, HG00183, HG00336, NA20502, NA20517, HG00272, HG00345, NA20538, HG00271, HG00278, HG00312, HG00361
Known GenesUPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666635
Frequency
Sample Size1151
Observed Gain0
Observed Loss100
Observed Complex0
Frequencyn/a


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