A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665691



Internal ID9931796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78728524..78728864hg38UCSC Ensembl
chr7:78357840..78358180hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6443324, essv6427185, essv5611133, essv6472907, essv6159795, essv6028027, essv5677774, essv6391933, essv6135178, essv5491004, essv6262712, essv6045454, essv5756791, essv5906093, essv6161090, essv5953078, essv5576546, essv6376367, essv6254867, essv6294167, essv6224745, essv6516328, essv5775142, essv5503308, essv6498180, essv5776664, essv5735224, essv6237877, essv5414952, essv6498847, essv5939275, essv5934085, essv6418661, essv5906701, essv6021687, essv5492122, essv5781293, essv5405377, essv6302759, essv5598993, essv5996812, essv5509706, essv5577715, essv5790178, essv5899890, essv5775727, essv5522019, essv6363518, essv5711903, essv6526470, essv5709193, essv5805846, essv5741531, essv6552605, essv6529125, essv6423344, essv6078571, essv5565111, essv6531910, essv6359977, essv6358385, essv6003551, essv5986627, essv5910694, essv5717816, essv6069829, essv6482055, essv6025857, essv5908463, essv5727924, essv6281997, essv5939918, essv5756005, essv6013439, essv5468244, essv6244108, essv6199015, essv6033737, essv5707030, essv5803035, essv5551251, essv5585673, essv5503158, essv6304178, essv6257303, essv5707435, essv5595722, essv5521106, essv5896779, essv6336722, essv6490812, essv6409884, essv6020683, essv5410297, essv5717750, essv6514488, essv5978641, essv6340752, essv6522297, essv5435667, essv6347014, essv5730921, essv5885598, essv5825595, essv5999777, essv5492775, essv5686427, essv6484446, essv6569459, essv5464149, essv6099079, essv6063692, essv5441376, essv6410988, essv6237677, essv6215677, essv5949638, essv5669136, essv5632165, essv6232222, essv5513946, essv6461569, essv6208986, essv6004834, essv6542667, essv6337574, essv5823680, essv6363073, essv5561482, essv6493635, essv6460564, essv6023183, essv6419871, essv6299486, essv5671645, essv5518746, essv6548144, essv5619961, essv6398152, essv5875578, essv5822775, essv5555369, essv5900410, essv5856358, essv6295041, essv6594595, essv5700350, essv5606930, essv6319534, essv5765067, essv6081982, essv6356469, essv6162217, essv5477686, essv6528452, essv6550503, essv6494418, essv6450302, essv5728523, essv6402957, essv6321501, essv5849741, essv6085317, essv5938771, essv6451809, essv6026331, essv5867997, essv6486350, essv6449164, essv5590388, essv5706469, essv5889251, essv6108675, essv5411591, essv6477287, essv6254347, essv5536843, essv6088107, essv6516056, essv5780611, essv5742000, essv5720109, essv6089250, essv5534465, essv5814239, essv5818718, essv6236723, essv5793891, essv5871563, essv6481263, essv5749379, essv5586272, essv5811367, essv6560161, essv6574445, essv6233270, essv5594559, essv5800267, essv6496545, essv5571248, essv5931827, essv5859655, essv6115574, essv5533591, essv5538314, essv6007527
SamplesHG00114, HG01441, NA19703, HG01462, NA18947, NA19664, NA11829, HG00671, HG00361, HG00242, NA19204, NA18861, HG01359, HG00524, NA19399, HG00187, NA18565, NA18561, NA18507, NA11933, NA18599, HG00315, NA18603, NA19393, NA18606, HG00179, NA19098, NA18870, NA18526, NA18633, HG00261, NA18988, NA18627, NA12813, HG00663, NA18967, NA19374, NA19068, NA18563, NA19660, NA19373, NA19171, NA19076, NA19005, NA18550, HG01070, HG00251, NA19201, NA19728, NA19448, NA19678, HG00702, HG00689, HG00173, NA18982, NA18635, NA12891, NA18547, HG00634, NA19131, NA18960, NA18618, NA07347, NA19088, NA18571, HG01083, NA18498, HG00334, HG00537, NA19079, HG00590, HG01069, NA19720, NA19383, HG00683, NA18977, HG00325, NA11932, NA19731, HG00534, NA19471, HG00705, NA19159, NA19901, NA18557, HG01048, NA18985, NA18975, NA18973, HG01550, HG00530, NA19789, NA19451, NA19200, NA11993, NA19007, NA18614, HG00313, HG00188, NA19210, HG00731, HG00629, HG00443, HG00282, NA19070, NA19056, HG00557, NA19152, NA12878, HG00577, HG00701, HG00657, HG00436, HG00556, HG00320, HG00584, NA19081, NA18637, HG00263, HG00275, NA18579, NA18976, NA18630, HG00619, HG00708, HG00635, NA18548, HG00740, NA19654, HG01102, HG00324, NA18573, NA11919, HG00651, NA20299, HG00690, NA12829, HG00331, NA18499, NA11894, NA12892, HG00613, HG00525, HG00321, HG00463, NA19160, HG00246, NA18634, NA12546, NA18945, NA18541, HG01204, NA18974, NA18953, NA19003, NA12716, HG01190, HG00285, NA19147, HG00625, NA19747, HG00366, HG00353, NA19072, NA18950, HG00734, NA19380, NA19144, NA19010, NA20527, HG00473, HG00237, NA19786, NA19083, NA18943, HG00418, HG00125, NA19376, HG00259, HG00421, HG00329, HG00174, NA18636, NA20786, HG00112, NA19770, HG00698, NA19780, NA18983, HG00472, NA19430, NA18989, NA19129, NA18968, NA12154, NA19065, HG00554, NA18612, HG00180, NA19074, HG01437, HG01061, HG00553, NA18562, NA18965, NA18577
Known GenesMAGI2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665691
Frequency
Sample Size1151
Observed Gain0
Observed Loss206
Observed Complex0
Frequencyn/a


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