A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986594



Internal ID12635114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:51060052..51460659hg38UCSC Ensembl
Innerchr15:51352249..51752856hg19UCSC Ensembl
Innerchr15:49139541..49540148hg18UCSC Ensembl
Innerchr15:49139541..49540148hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38400608
hg19400608
hg18400608
hg17400608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34532
Supporting Variants
SamplesNA19000
Known GenesCYP19A1, DMXL2, GLDN, MIR4713, TNFAIP8L3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986594
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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