A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665097



Internal ID9931202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81684031..81685937hg38UCSC Ensembl
Outerchr8:81683660..81686307hg38UCSC Ensembl
Innerchr8:82596266..82598172hg19UCSC Ensembl
Outerchr8:82595895..82598542hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5680247, essv5974538, essv5527169, essv5961719, essv6225542, essv5431530, essv6478320, essv5593453, essv6411595, essv5513696, essv6555663, essv6263497, essv5965711, essv6031959, essv5588428, essv5869903, essv6595190, essv6184656, essv5671377, essv6002486, essv5657293, essv6476320, essv6314500, essv6263211, essv5934681, essv5640019, essv5761839, essv6539823, essv5824150, essv6327009, essv6366308, essv5775035, essv5562737, essv6434916, essv5850208, essv5472801, essv5537608, essv5458607, essv6129229, essv5984205, essv5826228, essv5609365, essv6461796, essv6052399, essv5470922, essv6236495, essv5809032, essv6517281, essv5484046, essv5930226, essv6315905, essv5483566, essv6525192, essv6290260, essv5950405, essv5595407, essv6310039, essv6422547, essv5431064, essv5997259, essv6520616, essv5491718, essv5427964, essv6398475, essv6148915, essv5787983, essv6533198, essv5916960, essv6438882, essv5587838, essv6371925, essv6221407, essv6568939, essv6406394, essv5975032, essv6298500
SamplesHG00650, HG00542, HG00442, HG00592, HG00536, HG00608, HG00671, HG00559, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00443, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00476, HG00580, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00478, HG00421, HG00656, HG00698, HG00628, HG00437, HG00581, HG00593
Known GenesIMPA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665097
Frequency
Sample Size1151
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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