A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736836



Internal ID10320472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:30983977..30984768hg38UCSC Ensembl
Outerchr8:30841493..30842284hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38792
hg19792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1203e201
Supporting Variantsessv6856173, essv6768018, essv6861584, essv6760505, essv6752085, essv6904322, essv6856172, essv6787077
SamplesSSM064, SSM087, SSM013, SSM088, SSM057, SSM069, SSM061
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)esv2736836
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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