A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715683



Internal ID10299319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:13796382..13796661hg38UCSC Ensembl
Outerchr17:13699699..13699978hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966871, essv6761424
SamplesSSM027, SSM061
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)esv2715683
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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