A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731808



Internal ID9966126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31056497..31056814hg38UCSC Ensembl
Outerchr6:31024274..31024591hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694108, essv6943344, essv6671047
SamplesSSM023, SSM031, SSM037
Known GenesHCG22
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)esv2731808
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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