A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732579



Internal ID10316215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111882637..111882951hg38UCSC Ensembl
Outerchr6:112203840..112204154hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808502, essv6951985, essv6930519, essv6684060, essv6865679, essv6943519, essv6957134, essv6811389, essv6679410, essv6826481, essv6814400, essv6837507, essv6869828, essv6855346
SamplesSSM083, SSM075, SSM087, SSM023, SSM090, SSM026, SSM089, SSM020, SSM005, SSM080, SSM077, SSM076, SSM025, SSM034
Known Genes
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)esv2732579
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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