A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750992



Internal ID12984544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18918775..18940132hg38UCSC Ensembl
Innerchr11:18940322..18961679hg19UCSC Ensembl
Innerchr11:18896898..18918255hg18UCSC Ensembl
Innerchr11:18896898..18918255hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3821358
hg1921358
hg1821358
hg1721358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e55
Supporting Variantsessv6983717, essv6983718
SamplesBEC_617
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)esv2750992
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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