A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919541



Internal ID9683178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72875547..72881544hg38UCSC Ensembl
Outerchr8:73787782..73793779hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385998
hg195998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737154, esv2737160
Supporting Variants
SamplesSSM017
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)essv6919541
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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