A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749872



Internal ID9984156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:73460693..73461065hg38UCSC Ensembl
Outerchr15:73753034..73753406hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702880, essv6800660
SamplesSSM039, SSM072
Known GenesC15orf60
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)esv2749872
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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