A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739917



Internal ID9974259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6307639..6308204hg38UCSC Ensembl
Outerchr1:6367699..6368264hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859170, essv6917410, essv6801608, essv6950084, essv6780851, essv6967914
SamplesSSM073, SSM088, SSM028, SSM017, SSM068, SSM004
Known GenesACOT7
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)esv2739917
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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