A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752328



Internal ID12985880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:5140939..5669353hg38UCSC Ensembl
InnerchrX:5058980..5587394hg19UCSC Ensembl
InnerchrX:5068980..5597394hg18UCSC Ensembl
InnerchrX:4918716..5447130hg17UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg38528415
hg19528415
hg18528415
hg17528415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983582, essv6989820, essv6983580, essv6983581
SamplesBEC_669
Known Genes
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)esv2752328
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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