A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690961



Internal ID14680953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:60379009..60381707hg38UCSC Ensembl
Innerchr17:60380009..60380707hg38UCSC Ensembl
Outerchr17:60378009..60382707hg38UCSC Ensembl
chr17:58456370..58459068hg19UCSC Ensembl
Innerchr17:58457370..58458068hg19UCSC Ensembl
Outerchr17:58455370..58460068hg19UCSC Ensembl
chr17:55811152..55813850hg18UCSC Ensembl
Innerchr17:55812152..55812850hg18UCSC Ensembl
Outerchr17:55810152..55814850hg18UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3334367
Supporting Variants
SamplesNA19238
Known GenesUSP32
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690961
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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