A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751472



Internal ID12638338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22300085hg38UCSC Ensembl
Innerchr15:20186408..22588036hg19UCSC Ensembl
Innerchr15:18446422..20089400hg18UCSC Ensembl
Innerchr15:18446422..20089400hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382318931
hg192401629
hg181642979
hg171642979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6986720, essv6990290, essv6978832, essv6978831
SamplesNA12717
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)esv2751472
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer