A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752322



Internal ID12985874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33587108..34339958hg38UCSC Ensembl
InnerchrX:33605225..34358075hg19UCSC Ensembl
InnerchrX:33515146..34267996hg18UCSC Ensembl
InnerchrX:33364882..34117732hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38752851
hg19752851
hg18752851
hg17752851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985535, essv6981297, essv6981296, essv6981298
SamplesBEC_379
Known GenesFAM47A, RNU6-16P
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)esv2752322
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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