A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982216



Internal ID12626677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2534250..2772786hg38UCSC Ensembl
InnerchrX:2452291..2690827hg19UCSC Ensembl
InnerchrX:2462291..2700827hg18UCSC Ensembl
InnerchrX:2445652..2684188hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38238537
hg19238537
hg18238537
hg17238537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752318
Supporting Variants
SamplesBEC_402
Known GenesCD99, CD99P1, LINC00102, MIR6089-1, MIR6089-2, XG, XGPY2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982216
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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