A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715865



Internal ID10299501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:34614968..34615408hg38UCSC Ensembl
Outerchr17:32941987..32942427hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971556, essv6674262
SamplesSSM028, SSM031
Known GenesTMEM132E
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)esv2715865
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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