A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716063



Internal ID10299699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56220923..56220994hg38UCSC Ensembl
Outerchr17:54298284..54298355hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960461
SamplesSSM026
Known GenesANKFN1
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)esv2716063
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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