A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716426



Internal ID9950714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81119453..81119928hg38UCSC Ensembl
Outerchr17:79093253..79093728hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713651, essv6788531, essv6725227, essv6706874
SamplesSSM045, SSM042, SSM069, SSM040
Known GenesAATK
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)esv2716426
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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