A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750991



Internal ID12984543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18908268..18961087hg38UCSC Ensembl
Innerchr11:18929815..18982634hg19UCSC Ensembl
Innerchr11:18886391..18939210hg18UCSC Ensembl
Innerchr11:18886391..18939210hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3852820
hg1952820
hg1852820
hg1752820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e55
Supporting Variantsessv6983097, essv6986352, essv6983096
SamplesBEC_543
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)esv2750991
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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