A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989689



Internal ID7076274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119900852..119924377hg38UCSC Ensembl
InnerchrX:119034815..119058340hg19UCSC Ensembl
InnerchrX:118918843..118942368hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3823526
hg1923526
hg1823526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv203e180
Supporting Variantsessv3586579
SamplesHuRef
Known GenesAKAP14
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989689
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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