A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750995



Internal ID12984547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18918775..18940177hg38UCSC Ensembl
Innerchr11:18940322..18961724hg19UCSC Ensembl
Innerchr11:18896898..18918300hg18UCSC Ensembl
Innerchr11:18896898..18918300hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821403
hg1921403
hg1821403
hg1721403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e55
Supporting Variantsessv6984541, essv6987616, essv6988817
SamplesBEC_717
Known GenesMRGPRX1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750995
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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