A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667935



Internal ID9587354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5336105..5340411hg38UCSC Ensembl
Outerchr19:5335734..5340781hg38UCSC Ensembl
Innerchr19:5336116..5340422hg19UCSC Ensembl
Outerchr19:5335745..5340792hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385048
hg195048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6511938, essv6082457, essv6094132, essv5739425, essv6191537, essv5859483, essv6209127, essv6572863, essv5897478, essv6131847, essv5890121, essv6384131, essv6166654, essv6336239, essv6557447, essv5535109, essv6416364, essv6356150, essv6103468, essv6474717, essv5891610, essv5706093, essv6139314, essv6275695, essv5456052, essv6521192, essv6428844, essv6511181, essv5987383, essv6343371, essv5517212, essv6358593, essv6183042, essv6236440, essv6520296, essv5452251, essv5707851, essv5974574, essv5465618, essv5758269, essv5447752, essv6314828, essv5425145, essv5920072, essv5588825, essv6143923, essv6123685, essv6342815, essv5661222, essv5578339, essv5990361, essv6425270, essv5795410, essv6220509, essv5482377, essv5802228, essv5733939, essv5849160, essv6220042, essv6538575, essv5765553, essv5993208, essv6215010, essv5474703, essv5528244, essv6031264, essv6523257, essv5473089, essv6133435, essv6394644, essv5515394, essv5953747, essv5954859
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00707, HG00657, HG00428, HG00475, HG00542, HG00701, HG00683, HG00581, HG00404, HG00557, HG00699, HG00479, HG00635, HG00543, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00533, HG00419, HG00634, HG00584, HG00662, HG00436, HG00620, HG00629, HG00560, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00611, HG00650, HG00580, HG00448, HG00608, HG00530, HG00656, HG00422, HG00708, HG00693, HG00625, HG00690, HG00442, HG00473, HG00626, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesPTPRS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667935
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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