A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995492



Internal ID7079915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119901181..119923328hg38UCSC Ensembl
InnerchrX:119035144..119057291hg19UCSC Ensembl
InnerchrX:118919172..118941319hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3822148
hg1922148
hg1822148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv203e180
Supporting Variantsessv3586038
SamplesHuRef
Known GenesAKAP14
MethodSNP array
AnalysisPooled samples.
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995492
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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