A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34985



Internal ID12644335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2623614..3258451hg38UCSC Ensembl
InnerchrX:2541655..3176492hg19UCSC Ensembl
InnerchrX:2551655..3186492hg18UCSC Ensembl
InnerchrX:2535016..3169853hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38634838
hg19634838
hg18634838
hg17634838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987024, essv6980174
SamplesNA18966
Known GenesARSD, ARSE, ARSF, ARSH, CD99, CD99P1, GYG2, XG, XGPY2
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)esv34985
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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