A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716600



Internal ID10300236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83039178..83039659hg38UCSC Ensembl
Outerchr17:80997054..80997535hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665952, essv6874221, essv6824375, essv6801042, essv6977317, essv6858354, essv6682292, essv6909563, essv6715521, essv6820541, essv6863258, essv6913152, essv6696372
SamplesSSM079, SSM087, SSM088, SSM002, SSM029, SSM014, SSM033, SSM006, SSM072, SSM078, SSM037, SSM091, SSM004
Known GenesB3GNTL1
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)esv2716600
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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