A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752323



Internal ID12985875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:37930660..38116792hg38UCSC Ensembl
InnerchrX:37789913..37976045hg19UCSC Ensembl
InnerchrX:37674857..37860989hg18UCSC Ensembl
InnerchrX:37546130..37732262hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38186133
hg19186133
hg18186133
hg17186133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982411, essv6982410
SamplesBEC_437
Known GenesCXorf27, SYTL5
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)esv2752323
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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