A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731771



Internal ID9966089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29757973..29758159hg38UCSC Ensembl
Outerchr6:29725750..29725936hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969292, essv6841184
SamplesSSM028, SSM084
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)esv2731771
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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