A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731792



Internal ID9966110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:30451154..30463820hg38UCSC Ensembl
Outerchr6:30418931..30431597hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3812667
hg1912667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918721, essv6711790, essv6802539, essv6762594, essv6730844, essv6860768, essv6963650, essv6818167, essv6943340, essv6808351, essv6708380, essv6881931, essv6899641
SamplesSSM100, SSM027, SSM075, SSM073, SSM042, SSM088, SSM002, SSM041, SSM023, SSM047, SSM062, SSM017, SSM078
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2731792
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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