A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752337



Internal ID12985889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:79874088..79982959hg38UCSC Ensembl
InnerchrX:79129588..79238458hg19UCSC Ensembl
InnerchrX:79016244..79125114hg18UCSC Ensembl
InnerchrX:78935733..79044603hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38108872
hg19108871
hg18108871
hg17108871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982463, essv6986181
SamplesBEC_447
Known Genes
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)esv2752337
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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