A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691037



Internal ID15103648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77851775..77852573hg38UCSC Ensembl
Innerchr17:77851774..77852574hg38UCSC Ensembl
Outerchr17:77850775..77853573hg38UCSC Ensembl
chr17:75847857..75848655hg19UCSC Ensembl
Innerchr17:75847856..75848656hg19UCSC Ensembl
Outerchr17:75846857..75849655hg19UCSC Ensembl
chr17:73359452..73360250hg18UCSC Ensembl
Innerchr17:73360251..73359451hg18UCSC Ensembl
Outerchr17:73358452..73361250hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329265
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691037
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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