A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750997



Internal ID12984549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18918775..18953905hg38UCSC Ensembl
Innerchr11:18940322..18975452hg19UCSC Ensembl
Innerchr11:18896898..18932028hg18UCSC Ensembl
Innerchr11:18896898..18932028hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3835131
hg1935131
hg1835131
hg1735131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv43e55
Supporting Variantsessv6981346, essv6981345
SamplesBEC_389
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)esv2750997
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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