A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715550



Internal ID10299186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4210507..4211856hg38UCSC Ensembl
Outerchr17:4113802..4115151hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898086, essv6867950
SamplesSSM089, SSM099
Known GenesANKFY1
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)esv2715550
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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