A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865533



Internal ID9915775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29918032..30003250hg38UCSC Ensembl
Outerchr6:29885809..29971027hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3885219
hg1985219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731776
Supporting Variants
SamplesSSM089
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)essv6865533
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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