A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715836



Internal ID10299472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:33126866..33127172hg38UCSC Ensembl
Outerchr17:31453884..31454190hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750116
SamplesSSM056
Known GenesASIC2
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)esv2715836
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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