A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737719



Internal ID10321355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:139687632..139687791hg38UCSC Ensembl
Outerchr8:140699875..140700034hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672229, essv6712511
SamplesSSM042, SSM031
Known GenesKCNK9
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)esv2737719
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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