A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2990457



Internal ID10663437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119900037..119924037hg38UCSC Ensembl
InnerchrX:119034000..119058000hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3824001
hg1924001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41e209
Supporting Variantsessv7260024
SamplesHuRef
Known GenesAKAP14
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2990457
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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