A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6687197



Internal ID9754477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29867583..29996973hg38UCSC Ensembl
Outerchr6:29835360..29964750hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38129391
hg19129391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731775
Supporting Variants
SamplesSSM035
Known GenesHCG4B, HCG9, HLA-A, HLA-H
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)essv6687197
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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