A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691096



Internal ID15104023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:9816110..9817008hg38UCSC Ensembl
Innerchr17:9816109..9817009hg38UCSC Ensembl
Outerchr17:9815110..9818008hg38UCSC Ensembl
chr17:9719427..9720325hg19UCSC Ensembl
Innerchr17:9719426..9720326hg19UCSC Ensembl
Outerchr17:9718427..9721325hg19UCSC Ensembl
chr17:9660152..9661050hg18UCSC Ensembl
Innerchr17:9661051..9660151hg18UCSC Ensembl
Outerchr17:9659152..9662050hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399084
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691096
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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