A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751619



Internal ID12638485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20559595..21010843hg38UCSC Ensembl
Innerchr17:20462908..20914156hg19UCSC Ensembl
Innerchr17:20403500..20854748hg18UCSC Ensembl
Innerchr17:20403500..20854748hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38451249
hg19451249
hg18451249
hg17451249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985677, essv6981838, essv6981839
SamplesBEC_492
Known GenesCCDC144NL, CDRT15L2, LOC100287072, LOC440416, USP22
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)esv2751619
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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