A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411572



Internal ID14911846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46542870..46552568hg38UCSC Ensembl
Innerchr17:46543870..46551568hg38UCSC Ensembl
Outerchr17:46541870..46553568hg38UCSC Ensembl
chr17:44620236..44629934hg19UCSC Ensembl
Innerchr17:44621236..44628934hg19UCSC Ensembl
Outerchr17:44619236..44630934hg19UCSC Ensembl
chr17:41975552..41985250hg18UCSC Ensembl
Innerchr17:41976552..41984250hg18UCSC Ensembl
Outerchr17:41974552..41986250hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389699
hg199699
hg189699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690929
SamplesNA12892
Known GenesARL17A, LRRC37A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411572
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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