A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979522



Internal ID12633620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41489914..41632423hg38UCSC Ensembl
Innerchr17:39646166..39788675hg19UCSC Ensembl
Innerchr17:36899692..37042201hg18UCSC Ensembl
Innerchr17:36899692..37042201hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38142510
hg19142510
hg18142510
hg17142510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34903
Supporting Variants
SamplesNA18564
Known GenesKRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT42P, KRT9, LINC00974, MIR6510
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979522
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