A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6918720



Internal ID9682439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29944216..30260783hg38UCSC Ensembl
Outerchr6:29911993..30228560hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38316568
hg19316568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731777
Supporting Variants
SamplesSSM017
Known GenesHCG17, HCG8, HCG9, HLA-A, HLA-J, HLA-L, PPP1R11, RNF39, TRIM10, TRIM15, TRIM26, TRIM31, TRIM40, ZNRD1, 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)essv6918720
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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