A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677879



Internal ID9597298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38728176..38730782hg38UCSC Ensembl
Outerchr19:38727805..38731152hg38UCSC Ensembl
Innerchr19:39218816..39221422hg19UCSC Ensembl
Outerchr19:39218445..39221792hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv641e199
Supporting Variantsessv5709460, essv6151780, essv5471247, essv6371963, essv6490368, essv6309983, essv6246960, essv5591253, essv5774624, essv6139559, essv6406382, essv6096942, essv5869224, essv5867254, essv6014158, essv6091427, essv6502350, essv6154064, essv6500420, essv5643159, essv5998482, essv6288525, essv6334069, essv5815781, essv5847490, essv5909511, essv6517373, essv6537684, essv6404239, essv6329872, essv5443959, essv5786030, essv6123786, essv6174156, essv5935647, essv5849422, essv5584169, essv5881917, essv5893590, essv6073444, essv5515327, essv5844317, essv6265516, essv5970085, essv6007765, essv5497890, essv5936485, essv5488608, essv5895917, essv5811506, essv6537808, essv5834954, essv5629541, essv6108119, essv5467167, essv5636422, essv5944713, essv5679489, essv5410893, essv6094775, essv6270681, essv5607260, essv5507054, essv6123293, essv5770094, essv6230457, essv5453105, essv6147887, essv5497453, essv6160126, essv5763634, essv5516830, essv5406751, essv6090928, essv5804035
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00449, HG00654, HG00693, HG00663, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00427, HG00530, HG00419, HG00464, HG00543, HG00560, HG00629, HG00443, HG00596, HG00557, HG00428, HG00577, HG00701, HG00657, HG00475, HG00556, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00473, HG00607, HG00662, HG00418, HG00620, HG00672, HG00513, HG00578, HG00478, HG00421, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesACTN4, CAPN12
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677879
Frequency
Sample Size1151
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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