A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980174



Internal ID12634692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2639269..3256657hg38UCSC Ensembl
InnerchrX:2557310..3174698hg19UCSC Ensembl
InnerchrX:2567310..3184698hg18UCSC Ensembl
InnerchrX:2550671..3168059hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38617389
hg19617389
hg18617389
hg17617389
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34985
Supporting Variants
SamplesNA18966
Known GenesARSD, ARSE, ARSF, ARSH, CD99, CD99P1, GYG2, XG, XGPY2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980174
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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