A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684561



Internal ID9752030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72875547..72881595hg38UCSC Ensembl
Outerchr8:73787782..73793830hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386049
hg196049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737154, esv2737160
Supporting Variants
SamplesSSM034
Known GenesKCNB2
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)essv6684561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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