A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658548



Internal ID9577967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147657972..147658286hg38UCSC Ensembl
chr7:147355064..147355378hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6308647, essv6565982, essv5444565, essv5655779, essv6540081, essv5562363, essv5888715, essv5420120, essv6273695, essv6199240, essv6424894, essv6186102, essv5489476, essv6436798, essv6207612, essv6384639, essv5992077, essv6583860, essv5470101, essv6072094, essv6087584, essv6500052, essv5958139, essv5681423, essv6589395, essv5580937, essv6256071, essv6319528, essv6084755, essv5942621, essv6581729, essv6410166, essv6317611, essv6192453, essv5564331, essv5818703, essv5560218, essv6537309, essv5567996, essv6003390, essv5428041, essv6072000, essv6260755, essv5820978, essv5520962, essv5400220, essv6153263, essv6180164, essv5768770, essv5845419, essv5958035, essv6567246, essv6039808, essv6067172, essv5754326, essv5627302, essv5520788, essv6101211, essv6150742, essv5666380, essv6474134, essv5420662, essv5556912, essv5767120, essv5805589, essv6205807, essv5926488, essv5541675, essv5704684, essv6113538, essv6333774, essv6357047, essv6420321, essv5683212, essv5720191, essv5406489, essv5764788, essv6255808, essv6506211, essv5734861, essv5610247, essv6478970, essv5837873, essv5863904, essv5409580, essv5959846, essv6074488, essv5659034, essv6436385, essv5856192, essv6048879, essv6501799, essv6098233, essv6360527, essv5447979, essv6055721, essv5975772, essv6374676, essv6323273, essv6150303, essv5960590, essv6506160, essv6076965, essv5423493, essv5519777, essv5834389, essv5870784, essv6069030, essv6241024, essv6028535, essv5814900, essv5447152, essv6137257, essv5589411, essv5630992, essv5884879, essv6573259, essv6182321, essv5612186, essv6240114, essv5834493, essv5521503, essv6516952, essv5781682, essv6559306, essv5445187, essv6202522, essv6352461, essv6213447, essv6135095, essv6155596, essv6086333, essv5715066, essv5421537, essv6428563, essv6320571, essv6056051, essv5440481, essv5815265, essv6307217, essv5506211, essv6270617, essv5419841, essv5593969, essv6486382, essv6215993, essv5558862, essv6540295, essv6243254, essv6085815, essv5544562, essv6262724, essv5870773, essv6543518, essv5444233, essv5803217, essv5907833, essv6231478
SamplesHG01357, HG01441, NA20281, NA12827, HG00252, NA12750, NA11930, HG00182, NA19321, NA20522, NA18534, NA20503, HG00344, HG01353, NA18530, HG00418, NA20785, NA18561, NA20506, HG01055, NA07056, HG01342, NA20516, HG01173, HG01083, HG00112, HG00245, HG00464, NA20796, HG00736, HG00449, NA18550, HG00261, HG01098, NA20802, NA20775, NA19317, NA19359, NA19334, NA20800, HG00542, HG00553, HG00139, HG01188, HG00111, NA19685, NA07051, NA19648, HG00651, HG00335, HG01134, HG00737, NA19780, HG00156, NA18868, NA20586, HG01133, HG01521, HG00256, HG00342, HG00266, NA12414, NA19762, HG00154, HG01107, NA20585, NA11919, HG01384, HG00250, HG01140, NA12004, NA19917, NA19660, HG00140, NA19722, HG01183, HG01495, HG01047, HG00689, NA12273, HG00315, NA19908, HG00098, NA20541, NA12829, HG01136, NA20520, NA19056, NA19663, HG01187, NA12830, NA19700, NA12144, NA19082, NA19676, HG01465, NA19372, NA20536, NA19384, HG00263, NA20753, NA19002, NA19713, HG00273, HG00282, HG01069, NA11892, NA18942, NA19347, HG01080, HG01351, NA20542, HG00329, NA19707, NA19777, HG01094, HG01137, NA20537, HG00590, HG01190, HG00443, NA19723, NA06984, NA12889, NA19755, NA18577, NA20509, HG01390, NA20513, NA11830, HG00281, HG00285, NA19717, NA12842, HG00708, NA20758, NA12045, HG00693, NA11932, NA19130, HG01177, NA20768, HG00320, HG01498, HG00625, HG00641, NA18853, HG01374, HG01462, NA20524, NA20502, NA19385, NA19750, HG00278, NA19661, NA19779, NA19466, HG01354
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658548
Frequency
Sample Size1151
Observed Gain0
Observed Loss158
Observed Complex0
Frequencyn/a


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