A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715894



Internal ID10299530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37745876..37745999hg38UCSC Ensembl
Outerchr17:36105867..36105990hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858249
SamplesSSM087
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)esv2715894
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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