A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7238913



Internal ID10170509
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 StatusS
Merged Variantsesv2969346
Supporting Variants
SamplesHuRef
Known GenesGTPBP6, PLCXD1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7238913
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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