A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668276



Internal ID9587695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92347853..92348071hg38UCSC Ensembl
chr13:93000106..93000324hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5837119, essv5908003, essv5639678, essv5415278, essv6169792, essv5567900, essv6487775, essv5997590, essv5671218, essv6131224, essv6204885, essv6481071, essv6043092, essv5786247, essv5807350, essv5589340, essv6442622, essv5722753, essv5970433, essv5735297, essv5965302, essv5809463, essv6281430, essv5505225, essv6399335, essv5628960, essv6091941, essv6203707, essv5675755, essv5610501, essv6185170, essv5446331, essv6489096, essv5494560, essv5758315, essv6264087, essv5502958, essv6364942, essv6249497, essv5819331, essv6069974, essv5428032, essv6425107, essv6059838, essv6299553, essv6392016, essv6572084, essv5552666, essv6112443, essv6130288, essv6183789, essv6508283, essv6516977, essv6193634, essv6004368, essv6547027, essv6056751, essv6259301, essv6491601, essv5607261, essv6136380
SamplesHG00323, NA11881, HG00734, HG00252, NA12750, HG00257, NA11930, HG00418, HG01075, NA20506, NA12342, NA19437, HG00369, NA20531, HG01079, NA10847, HG00577, NA18953, HG00326, HG00139, NA20539, HG00335, HG00253, HG01551, HG00247, NA19077, HG00154, HG00339, NA19428, HG01140, NA18627, HG00421, NA11994, HG00692, NA20754, HG01124, NA19398, HG01253, HG00373, HG00620, HG00653, NA20536, HG00325, HG00265, NA20774, NA20582, HG00329, HG00512, HG00589, HG00595, NA18983, HG00608, NA11830, HG00281, HG00183, HG00137, HG00626, HG00345, NA19661, HG00136, HG01067
Known GenesGPC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668276
Frequency
Sample Size1151
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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