A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716536



Internal ID10300172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82764827..82764920hg38UCSC Ensembl
Outerchr17:80722703..80722796hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv439e201
Supporting Variantsessv6858343, essv6868067
SamplesSSM087, SSM089
Known GenesTBCD
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)esv2716536
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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