A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981968



Internal ID12627537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:864995..977413hg38UCSC Ensembl
Innerchr17:768235..880653hg19UCSC Ensembl
Innerchr17:714985..827403hg18UCSC Ensembl
Innerchr17:714985..827403hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38112419
hg19112419
hg18112419
hg17112419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751769
Supporting Variants
SamplesBEC_51
Known GenesNXN
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981968
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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