A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732843



Internal ID10316479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147739293..147739962hg38UCSC Ensembl
Outerchr6:148060429..148061098hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929640
SamplesSSM003
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)esv2732843
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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