A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691026



Internal ID14714255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76397276..76399674hg38UCSC Ensembl
Innerchr17:76398276..76398674hg38UCSC Ensembl
Outerchr17:76396276..76400674hg38UCSC Ensembl
chr17:74393357..74395755hg19UCSC Ensembl
Innerchr17:74394357..74394755hg19UCSC Ensembl
Outerchr17:74392357..74396755hg19UCSC Ensembl
chr17:71904952..71907350hg18UCSC Ensembl
Innerchr17:71905952..71906350hg18UCSC Ensembl
Outerchr17:71903952..71908350hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399280
Supporting Variants
SamplesNA19239
Known GenesUBE2O
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691026
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