A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865991



Internal ID13318170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68613486..68613499hg38UCSC Ensembl
Innerchr17:68613462..68613523hg38UCSC Ensembl
Outerchr17:68613449..68613536hg38UCSC Ensembl
chr17:66609627..66609640hg19UCSC Ensembl
Innerchr17:66609603..66609664hg19UCSC Ensembl
Outerchr17:66609590..66609677hg19UCSC Ensembl
chr17:64121222..64121235hg18UCSC Ensembl
Innerchr17:64121259..64121198hg18UCSC Ensembl
Outerchr17:64121185..64121272hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3383273
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865991
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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