A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751735



Internal ID12638601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46085231..46733750hg38UCSC Ensembl
Innerchr17:44162597..44811116hg19UCSC Ensembl
Innerchr17:41518415..42166300hg18UCSC Ensembl
Innerchr17:41518415..42166300hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38648520
hg19648520
hg18647886
hg17647886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e55
Supporting Variantsessv6980656, essv6980655, essv6990510, essv6980657
SamplesBEC_101
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)esv2751735
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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