A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750989



Internal ID12984541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18891674..18953905hg38UCSC Ensembl
Innerchr11:18913221..18975452hg19UCSC Ensembl
Innerchr11:18869797..18932028hg18UCSC Ensembl
Innerchr11:18869797..18932028hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3862232
hg1962232
hg1862232
hg1762232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e55
Supporting Variantsessv6982654, essv6986228, essv6982655
SamplesBEC_576
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)esv2750989
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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