A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979654



Internal ID12633857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20937641hg38UCSC Ensembl
Innerchr15:20167089..21142970hg19UCSC Ensembl
Innerchr15:18427103..19407629hg18UCSC Ensembl
Innerchr15:18427103..19407629hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38975806
hg19975882
hg18980527
hg17980527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751344
Supporting Variants
SamplesNA18593
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979654
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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