A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752318



Internal ID12639184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:2504267..2776199hg38UCSC Ensembl
InnerchrX:2422308..2694240hg19UCSC Ensembl
InnerchrX:2432308..2704240hg18UCSC Ensembl
InnerchrX:2415669..2687601hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38271933
hg19271933
hg18271933
hg17271933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982216, essv6988506
SamplesBEC_402
Known GenesCD99, CD99P1, LINC00102, MIR6089-1, MIR6089-2, 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)esv2752318
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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