A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911294



Internal ID9676298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29798491..29954856hg38UCSC Ensembl
Outerchr6:29766268..29922633hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38156366
hg19156366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731767, esv2731775
Supporting Variants
SamplesSSM015
Known GenesHCG4B, HLA-A, HLA-G, 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)essv6911294
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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