A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750999



Internal ID12984551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18918775..18956549hg38UCSC Ensembl
Innerchr11:18940322..18978096hg19UCSC Ensembl
Innerchr11:18896898..18934672hg18UCSC Ensembl
Innerchr11:18896898..18934672hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3837775
hg1937775
hg1837775
hg1737775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e55
Supporting Variantsessv6986101, essv6982203
SamplesBEC_402
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)esv2750999
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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