A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742919



Internal ID9977203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29913503..29998781hg38UCSC Ensembl
Outerchr6:29881280..29966558hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3885279
hg1985279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv993e201
Supporting Variantsessv6926728
SamplesSSM019
Known GenesHCG4B, HCG9, HLA-A
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)esv2742919
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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