A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2969346



Internal ID10642326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:279333..305333hg38UCSC Ensembl
InnerchrX:196000..222000hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7238913
SamplesHuRef
Known GenesGTPBP6, PLCXD1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2969346
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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