A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750988



Internal ID12984540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18882057..18940132hg38UCSC Ensembl
Innerchr11:18903604..18961679hg19UCSC Ensembl
Innerchr11:18860180..18918255hg18UCSC Ensembl
Innerchr11:18860180..18918255hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3858076
hg1958076
hg1858076
hg1758076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983854, essv6983855
SamplesBEC_635
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)esv2750988
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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