A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752336



Internal ID12639202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7904862..8063263hg38UCSC Ensembl
InnerchrX:7872903..8031304hg19UCSC Ensembl
InnerchrX:7832903..7991304hg18UCSC Ensembl
InnerchrX:7682639..7841040hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38158402
hg19158402
hg18158402
hg17158402
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981262, essv6981261, essv6989229, essv6987933
SamplesBEC_374
Known GenesPNPLA4
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)esv2752336
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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