A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978321



Internal ID12635101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:51060011..51448811hg38UCSC Ensembl
Innerchr15:51352208..51741008hg19UCSC Ensembl
Innerchr15:49139500..49528300hg18UCSC Ensembl
Innerchr15:49139500..49528300hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38388801
hg19388801
hg18388801
hg17388801
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)essv6978321
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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