A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750987



Internal ID12637853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:18865912..18953675hg38UCSC Ensembl
Innerchr11:18887459..18975222hg19UCSC Ensembl
Innerchr11:18844035..18931798hg18UCSC Ensembl
Innerchr11:18844035..18931798hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3887764
hg1987764
hg1887764
hg1787764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985196, essv6988903
SamplesSPC_124
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)esv2750987
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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