A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690693



Internal ID13731773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:22741998..22763679hg38UCSC Ensembl
Innerchr17:22742998..22762696hg38UCSC Ensembl
Outerchr17:22740998..22763679hg38UCSC Ensembl
chr17:22241325..22263006hg19UCSC Ensembl
Innerchr17:22242325..22262023hg19UCSC Ensembl
Outerchr17:22240325..22263006hg19UCSC Ensembl
chr17:22165452..22187150hg18UCSC Ensembl
Innerchr17:22166452..22186150hg18UCSC Ensembl
Outerchr17:22164452..22188150hg18UCSC Ensembl
Cytoband17p11.1
Allele length
AssemblyAllele length
hg3821682
hg1921682
hg1821699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3373723
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690693
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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