A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905569



Internal ID10016916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:56220643..56221047hg38UCSC Ensembl
Outerchr17:54298004..54298408hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716061, esv2716060
Supporting Variants
SamplesSSM013
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)essv6905569
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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