A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751005



Internal ID12984557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927673..18940132hg38UCSC Ensembl
Innerchr11:18949220..18961679hg19UCSC Ensembl
Innerchr11:18905796..18918255hg18UCSC Ensembl
Innerchr11:18905796..18918255hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3812460
hg1912460
hg1812460
hg1712460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e55
Supporting Variantsessv6989276, essv6982004
SamplesBEC_512
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)esv2751005
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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