A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6903697



Internal ID9668725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31281662..31361605hg38UCSC Ensembl
Outerchr6:31249439..31329382hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3879944
hg1979944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731820, esv2731814, esv2731812, esv2731817
Supporting Variants
SamplesSSM013
Known GenesHLA-B, MIR6891
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)essv6903697
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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