A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674759



Internal ID9940864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88832903..89245339hg38UCSC Ensembl
Outerchr2:88832532..89245709hg38UCSC Ensembl
Innerchr2:89132416..89544822hg19UCSC Ensembl
Outerchr2:89132045..89545192hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38413178
hg19413148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv6164702, essv6579097, essv5494000, essv6091154, essv6217366, essv5685256, essv6130172, essv5584695, essv6551082, essv6029097, essv5766880, essv6291709, essv5778563, essv5987423, essv5942610, essv5686623, essv5673217, essv5479530, essv6540795, essv6230214, essv5558516, essv6514837, essv6535372, essv6005899, essv5663039, essv5735351, essv5837425, essv6140102, essv5856454, essv5525951, essv5444700, essv6245081, essv6463107, essv6252074, essv6281165, essv5824728, essv5736110, essv6548941, essv5642432, essv6005195, essv6505162, essv6562713, essv6200904, essv5926853, essv5670278, essv5662964, essv6044618, essv5522008, essv6263951, essv6147624, essv5762304, essv5996933, essv6331780, essv5608648, essv6247545, essv6564442, essv6439661, essv5466890, essv6115768, essv6021938, essv6552471, essv6524782, essv5859820
SamplesHG00096, HG00143, HG00231, HG00142, HG00249, HG00242, HG00100, HG00257, HG00151, HG00233, HG00244, HG00103, HG00261, HG00138, HG00127, HG00251, HG00122, HG00158, HG00139, HG00120, HG00148, HG00106, HG00156, HG00262, HG00232, HG00160, HG00118, HG00159, HG00253, HG00264, HG00108, HG00260, HG00137, HG00133, HG00149, HG00245, HG00263, HG00239, HG00250, HG00117, HG00157, HG00140, HG01334, HG00152, HG00146, HG00246, HG00126, HG00124, HG00155, HG00254, HG00119, HG00265, HG00136, HG00237, HG00116, HG00256, HG00125, HG00111, HG00259, HG00123, HG00112, HG00131, HG00252
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674759
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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