A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34477



Internal ID12643829
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 StatusM
Merged Variants
Supporting Variantsessv6987015, essv6980139, essv6980140
SamplesNA18960
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34477
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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