A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671947



Internal ID9938052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8207994..8227600hg38UCSC Ensembl
Outerchr8:8207623..8227970hg38UCSC Ensembl
Innerchr8:8065516..8085122hg19UCSC Ensembl
Outerchr8:8065145..8085492hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820348
hg1920348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1266e199
Supporting Variantsessv5960492, essv6375454, essv6121842, essv5815512, essv5956514, essv6078094, essv6330622, essv5839082, essv6552135, essv6215759, essv6332857, essv5408891, essv5899696, essv5549598, essv5556176, essv5441626, essv5919001, essv6439098, essv5608332, essv5584221, essv5571439, essv5413324, essv5962361, essv5648779, essv5851662, essv5513582, essv6203446, essv6301879, essv5848107, essv6218352, essv5952471, essv6519024, essv6401423, essv5558720, essv5747431, essv6524148, essv6537998, essv5697848, essv5964502, essv5431255, essv6147051, essv5978559, essv5892255, essv5923343, essv6498957, essv5497591, essv5482115, essv5925756, essv5932131, essv6193111, essv6046964, essv5594278, essv6442553, essv6214433, essv5692570, essv5725022, essv6323666, essv6100132, essv5723435, essv5448399, essv5685908, essv6274676, essv6221414, essv6574313, essv6391010, essv5470655, essv5793682, essv6249701, essv6074309, essv5460634, essv5743153, essv6536133, essv6069443, essv5971394, essv6394641, essv5970140, essv5757983, essv5863606, essv6213735, essv6028890
SamplesHG00403, HG00650, HG00542, HG00592, HG00608, HG00559, HG00524, HG00699, HG00566, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00565, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00595, HG00472, HG00628, HG00437, HG00581, HG00593
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671947
Frequency
Sample Size1151
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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