A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751695



Internal ID12638561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46062316..46723974hg38UCSC Ensembl
Innerchr17:44139682..44801340hg19UCSC Ensembl
Innerchr17:41495500..42156524hg18UCSC Ensembl
Innerchr17:41495500..42156524hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38661659
hg19661659
hg18661025
hg17661025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6982273, essv6988513, essv6986124, essv6986125, essv6982272
SamplesBEC_41
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)esv2751695
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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