A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451466



Internal ID15298412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83022087..83023385hg38UCSC Ensembl
Innerchr17:83022385..83023087hg38UCSC Ensembl
Outerchr17:83021087..83024385hg38UCSC Ensembl
chr17:80979963..80981261hg19UCSC Ensembl
Innerchr17:80980261..80980963hg19UCSC Ensembl
Outerchr17:80978963..80982261hg19UCSC Ensembl
chr17:78573252..78574550hg18UCSC Ensembl
Innerchr17:78574252..78573550hg18UCSC Ensembl
Outerchr17:78572252..78575550hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1833e59
Supporting Variantsessv8691068
SamplesNA19239
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451466
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer