A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690995



Internal ID15060844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:812462..813260hg38UCSC Ensembl
Innerchr17:812461..813261hg38UCSC Ensembl
Outerchr17:811462..814260hg38UCSC Ensembl
chr17:715702..716500hg19UCSC Ensembl
Innerchr17:715701..716501hg19UCSC Ensembl
Outerchr17:714702..717500hg19UCSC Ensembl
chr17:662452..663250hg18UCSC Ensembl
Innerchr17:663251..662451hg18UCSC Ensembl
Outerchr17:661452..664250hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369458
Supporting Variants
SamplesNA19239
Known GenesNXN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690995
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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