A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742080



Internal ID10296196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:942515..942997hg38UCSC Ensembl
Outerchr17:845755..846237hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv395e201
Supporting Variantsessv6820403
SamplesSSM078
Known GenesNXN
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)esv2742080
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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