A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677731



Internal ID9943836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40916697..40922103hg38UCSC Ensembl
Outerchr8:40916326..40922473hg38UCSC Ensembl
Innerchr8:40774216..40779622hg19UCSC Ensembl
Outerchr8:40773845..40779992hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386148
hg196148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1283e199
Supporting Variantsessv5603075, essv6045547, essv6153272, essv6153827, essv6207954, essv6556110, essv5478267, essv6357202, essv6221727, essv5514649, essv5858114, essv6581645, essv6150500, essv6093539, essv5496790, essv5533389, essv5928381, essv6505698, essv6310394, essv6223726, essv5435080, essv6116970, essv5546941, essv5843326, essv5728205, essv6171383, essv5750520, essv5470294, essv6226724, essv6453876, essv5672398, essv5896687, essv6267722, essv5485148, essv6477635, essv6449489, essv6262628, essv5767797, essv5554418, essv6058697, essv6542897, essv6180256, essv6445737, essv6295073, essv5743331, essv6382560, essv6066354, essv5422122, essv5976491, essv5563922, essv6115006, essv5747517, essv5874002, essv6367423, essv6392132, essv5401916, essv6234224, essv5573267, essv6550702, essv6430913, essv6572040, essv6204342, essv6319305, essv5894091, essv5415317, essv5454147, essv5717699, essv6248439, essv6428289, essv5785064, essv5485291
SamplesHG00626, HG00650, HG00542, HG00442, HG00592, HG00536, HG00559, HG00524, HG00699, HG00566, HG00449, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00590, HG00512, HG00534, HG00422, HG00705, HG00427, HG00419, HG00464, HG00543, HG00560, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00436, HG00556, HG00584, HG00583, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00479, HG00684, HG00613, HG00525, HG00704, HG00611, HG00476, HG00565, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00478, HG00698, HG00595, HG00472, HG00628, HG00581, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677731
Frequency
Sample Size1151
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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