A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6918689



Internal ID9682412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29926280..29941170hg38UCSC Ensembl
Outerchr6:29894057..29908947hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3814891
hg1914891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731769, esv2731776, esv2731775
Supporting Variants
SamplesSSM017
Known GenesHCG4B
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)essv6918689
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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