A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3426393



Internal ID15273350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28515007..28518205hg38UCSC Ensembl
Innerchr17:28516007..28517205hg38UCSC Ensembl
Outerchr17:28514007..28519205hg38UCSC Ensembl
chr17:26842025..26845223hg19UCSC Ensembl
Innerchr17:26843025..26844223hg19UCSC Ensembl
Outerchr17:26841025..26846223hg19UCSC Ensembl
chr17:23866152..23869350hg18UCSC Ensembl
Innerchr17:23867152..23868350hg18UCSC Ensembl
Outerchr17:23865152..23870350hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690702
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3426393
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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