A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699224



Internal ID9764403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80355399..80355714hg38UCSC Ensembl
Outerchr17:78329199..78329514hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716376
Supporting Variants
SamplesSSM038
Known GenesLOC100294362, RNF213
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)essv6699224
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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