A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865967



Internal ID13863691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27037885..27037885hg38UCSC Ensembl
Innerchr17:27037883..27037887hg38UCSC Ensembl
Outerchr17:27037883..27037887hg38UCSC Ensembl
chr17:25364911..25364911hg19UCSC Ensembl
Innerchr17:25364909..25364913hg19UCSC Ensembl
Outerchr17:25364909..25364913hg19UCSC Ensembl
chr17:22389038..22389038hg18UCSC Ensembl
Innerchr17:22389040..22389036hg18UCSC Ensembl
Outerchr17:22389036..22389040hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325299
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865967
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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