A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883819



Internal ID9639610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31413774..31508703hg38UCSC Ensembl
Outerchr6:31381551..31476480hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3894930
hg1994930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731812, esv2731822
Supporting Variants
SamplesSSM002
Known GenesHCG26, HCP5, MICA, MICB
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)essv6883819
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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