A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720762



Internal ID10304398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192640501..192640874hg38UCSC Ensembl
Outerchr1:192609631..192610004hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6951440, essv6954971, essv6832716
SamplesSSM026, SSM082, SSM004
Known GenesRGS13
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)esv2720762
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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