A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691048



Internal ID15103709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80510857..80512055hg38UCSC Ensembl
Innerchr17:80511055..80511857hg38UCSC Ensembl
Outerchr17:80509857..80513055hg38UCSC Ensembl
chr17:78484657..78485855hg19UCSC Ensembl
Innerchr17:78484855..78485657hg19UCSC Ensembl
Outerchr17:78483657..78486855hg19UCSC Ensembl
chr17:76099252..76100450hg18UCSC Ensembl
Innerchr17:76100252..76099450hg18UCSC Ensembl
Outerchr17:76098252..76101450hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3352240
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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