A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751001



Internal ID12984553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18927673..18938477hg38UCSC Ensembl
Innerchr11:18949220..18960024hg19UCSC Ensembl
Innerchr11:18905796..18916600hg18UCSC Ensembl
Innerchr11:18905796..18916600hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3810805
hg1910805
hg1810805
hg1710805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv44e55
Supporting Variantsessv6984701, essv6990005
SamplesSPC_167
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)esv2751001
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer