A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715590



Internal ID9949877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6862585..6863134hg38UCSC Ensembl
Outerchr17:6765904..6766453hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6758642
SamplesSSM059
Known GenesALOX12P2
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)esv2715590
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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