A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432388



Internal ID15279344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80510857..80511955hg38UCSC Ensembl
Innerchr17:80510955..80511857hg38UCSC Ensembl
Outerchr17:80509857..80512955hg38UCSC Ensembl
chr17:78484657..78485755hg19UCSC Ensembl
Innerchr17:78484755..78485657hg19UCSC Ensembl
Outerchr17:78483657..78486755hg19UCSC Ensembl
chr17:76099252..76100350hg18UCSC Ensembl
Innerchr17:76100252..76099350hg18UCSC Ensembl
Outerchr17:76098252..76101350hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1828e59
Supporting Variantsessv8691047
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432388
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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