A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986593



Internal ID12635113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50983931..51460659hg38UCSC Ensembl
Innerchr15:51276128..51752856hg19UCSC Ensembl
Innerchr15:49063420..49540148hg18UCSC Ensembl
Innerchr15:49063420..49540148hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38476729
hg19476729
hg18476729
hg17476729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34532
Supporting Variants
SamplesNA19000
Known GenesAP4E1, CYP19A1, DMXL2, GLDN, MIR4713, TNFAIP8L3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986593
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