A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978322



Internal ID12635102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:51060052..51448859hg38UCSC Ensembl
Innerchr15:51352249..51741056hg19UCSC Ensembl
Innerchr15:49139541..49528348hg18UCSC Ensembl
Innerchr15:49139541..49528348hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38388808
hg19388808
hg18388808
hg17388808
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)essv6978322
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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