A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349457



Internal ID15196439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81299657..81301355hg38UCSC Ensembl
Innerchr17:81300355..81300657hg38UCSC Ensembl
Outerchr17:81298657..81302355hg38UCSC Ensembl
chr17:79273457..79275155hg19UCSC Ensembl
Innerchr17:79274155..79274457hg19UCSC Ensembl
Outerchr17:79272457..79276155hg19UCSC Ensembl
chr17:76888052..76889750hg18UCSC Ensembl
Innerchr17:76889052..76888750hg18UCSC Ensembl
Outerchr17:76887052..76890750hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691056
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349457
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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