A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674983



Internal ID9941088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119068777..119070883hg38UCSC Ensembl
Outerchr8:119068406..119071353hg38UCSC Ensembl
Innerchr8:120081016..120083122hg19UCSC Ensembl
Outerchr8:120080645..120083592hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5746836, essv5867941, essv6539939, essv6466375, essv6133479, essv6244474, essv5858805, essv6105096, essv6140895, essv6022958, essv5543587, essv5464407, essv6164778, essv5808638, essv6525576, essv5414409, essv6214110, essv5713770, essv6410231, essv6361931, essv6020729, essv5582023, essv6341597, essv6199337, essv5538251, essv6287130, essv6361502, essv6573568, essv6178633, essv6092293, essv5487409, essv5814838, essv5904281, essv5902126, essv5417452, essv6346005, essv6438329, essv5891555, essv6463684, essv6454295, essv5565342, essv5811038, essv6201884, essv5552474, essv6416771, essv5645589, essv6124239, essv5726960, essv6108854, essv5853607, essv6552770, essv5719823, essv5680761, essv6252242, essv5911705, essv5868728, essv5621192, essv5741778, essv6276402, essv6036165, essv6254010, essv5751641, essv5571460, essv6214574, essv6098122, essv5594896, essv6264834, essv5687179, essv6217174, essv6036884, essv6452499, essv5937251, essv6412789, essv5841704, essv5502588, essv6135152, essv6043306, essv5740112, essv6143864, essv6078883, essv6389134, essv5990816, essv6205547, essv5751189, essv5467163, essv5661217, essv5962734, essv5763072, essv6027409, essv5716803, essv5412474, essv5488728, essv5794239, essv5918226, essv6063633, essv5998928, essv6249998, essv5622006, essv5682636, essv6027356, essv6211115, essv5748128, essv6375846, essv5840177, essv5764115, essv6524107, essv6068797, essv5642469, essv5939643, essv5758238, essv5719397, essv5641411, essv5407698, essv5969749
SamplesHG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00315, HG00367, HG00318, HG00699, HG00449, HG00177, HG00654, HG00693, HG00327, HG00271, HG00663, HG00589, HG00272, HG00501, HG00702, HG00689, HG00448, HG00330, HG00369, HG00334, HG00537, HG00311, HG00512, HG00281, HG00683, HG00335, HG00325, HG00534, HG00422, HG00705, HG00427, HG00326, HG00323, HG00419, HG00464, HG00543, HG00188, HG00443, HG00268, HG00282, HG00557, HG00328, HG00428, HG00653, HG00701, HG00657, HG00368, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, HG00500, HG00275, HG00619, HG00708, HG00692, HG00635, HG00324, HG00284, HG00273, HG00651, HG00690, HG00531, HG00479, HG00331, HG00684, HG00613, HG00321, HG00276, HG00704, HG00463, HG00476, HG00336, HG00285, HG00366, HG00353, HG00580, HG00375, HG00357, HG00278, HG00473, HG00607, HG00319, HG00662, HG00418, HG00620, HG00269, HG00707, HG00672, HG00614, HG00513, HG00478, HG00312, HG00421, HG00656, HG00342, HG00310, HG00698, HG00343, HG00377, HG00171, HG00345, HG00437, HG00581
Known GenesCOLEC10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674983
Frequency
Sample Size1151
Observed Gain0
Observed Loss114
Observed Complex0
Frequencyn/a


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