A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2658548

Internal ID9577967
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147657972..147658286hg38UCSC Ensembl
chr7:147355064..147355378hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2658548
Sample Size1151
Observed Gain0
Observed Loss158
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer