A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732611



Internal ID10316247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117459122..117459746hg38UCSC Ensembl
Outerchr6:117780285..117780909hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6734419, essv6757460, essv6957143, essv6960373, essv6802635, essv6671220
SamplesSSM059, SSM073, SSM026, SSM031, SSM001, SSM049
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)esv2732611
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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