A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980139



Internal ID12634639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21398128..21605576hg38UCSC Ensembl
Innerchr17:21301440..21508842hg19UCSC Ensembl
Innerchr17:21242033..21449435hg18UCSC Ensembl
Innerchr17:21242033..21449435hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38207449
hg19207403
hg18207403
hg17207403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34477
Supporting Variants
SamplesNA18960
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980139
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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