A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743108



Internal ID9807210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29917152..30002448hg38UCSC Ensembl
Outerchr6:29884929..29970225hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3885297
hg1985297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741386
Supporting Variants
SamplesSSM053
Known GenesHCG4B, HCG9, HLA-A, ZNRD1-AS1
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)essv6743108
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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