A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990491



Internal ID7076622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119900685..119924491hg38UCSC Ensembl
InnerchrX:119034648..119058454hg19UCSC Ensembl
InnerchrX:118918676..118942482hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3823807
hg1923807
hg1823807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv203e180
Supporting Variantsessv3586924
SamplesHuRef
Known GenesAKAP14
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990491
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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