A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716309



Internal ID9950597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78433803..78434133hg38UCSC Ensembl
Outerchr17:76429884..76430214hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721402, essv6960513
SamplesSSM044, SSM026
Known GenesDNAH17
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)esv2716309
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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