A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740876



Internal ID15084546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63788416..63788416hg38UCSC Ensembl
Innerchr17:63788415..63788417hg38UCSC Ensembl
Outerchr17:63788366..63788466hg38UCSC Ensembl
chr17:61865776..61865776hg19UCSC Ensembl
Innerchr17:61865775..61865777hg19UCSC Ensembl
Outerchr17:61865726..61865826hg19UCSC Ensembl
chr17:59219508..59219508hg18UCSC Ensembl
Innerchr17:59219509..59219507hg18UCSC Ensembl
Outerchr17:59219458..59219558hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337816
Supporting Variants
SamplesNA19240
Known GenesDDX42
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740876
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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