A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410940



Internal ID15257900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48089521..48090281hg38UCSC Ensembl
Innerchr17:48089521..48090281hg38UCSC Ensembl
Outerchr17:48088994..48090467hg38UCSC Ensembl
chr17:46166883..46167643hg19UCSC Ensembl
Innerchr17:46166883..46167643hg19UCSC Ensembl
Outerchr17:46166356..46167829hg19UCSC Ensembl
chr17:43521882..43522642hg18UCSC Ensembl
Innerchr17:43521882..43522642hg18UCSC Ensembl
Outerchr17:43521355..43522828hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38761
hg19761
hg18761
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651963
SamplesNA19240
Known GenesCBX1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410940
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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