A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737334



Internal ID10320970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:96502264..96502936hg38UCSC Ensembl
Outerchr8:97514492..97515164hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818992, essv6687828, essv6677219, essv6850226, essv6740555, essv6890774, essv6667923
SamplesSSM097, SSM035, SSM032, SSM086, SSM078, SSM052, SSM030
Known GenesSDC2
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)esv2737334
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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