A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751292



Internal ID12984844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..20937641hg38UCSC Ensembl
Innerchr15:20167086..21142970hg19UCSC Ensembl
Innerchr15:18427100..19407629hg18UCSC Ensembl
Innerchr15:18427100..19407629hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38975809
hg19975885
hg18980530
hg17980530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv91e55
Supporting Variantsessv6982171, essv6988500
SamplesBEC_40
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751292
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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