A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751020



Internal ID12984572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927673..18962848hg38UCSC Ensembl
Innerchr11:18949220..18984395hg19UCSC Ensembl
Innerchr11:18905796..18940971hg18UCSC Ensembl
Innerchr11:18905796..18940971hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3835176
hg1935176
hg1835176
hg1735176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e55
Supporting Variantsessv6985602, essv6981544, essv6988416
SamplesBEC_299
Known GenesMRGPRX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751020
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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