A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750996



Internal ID12984548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18918775..18953675hg38UCSC Ensembl
Innerchr11:18940322..18975222hg19UCSC Ensembl
Innerchr11:18896898..18931798hg18UCSC Ensembl
Innerchr11:18896898..18931798hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3834901
hg1934901
hg1834901
hg1734901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e55
Supporting Variantsessv6984624, essv6984625
SamplesBEC_726
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)esv2750996
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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