A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419191



Internal ID15266149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:952097..952737hg38UCSC Ensembl
Innerchr17:952097..952737hg38UCSC Ensembl
Outerchr17:951246..953599hg38UCSC Ensembl
chr17:855337..855977hg19UCSC Ensembl
Innerchr17:855337..855977hg19UCSC Ensembl
Outerchr17:854486..856839hg19UCSC Ensembl
chr17:802087..802727hg18UCSC Ensembl
Innerchr17:802087..802727hg18UCSC Ensembl
Outerchr17:801236..803589hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38641
hg19641
hg18641
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651984
SamplesNA19240
Known GenesNXN
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419191
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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