A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422493



Internal ID7906590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:6401970..6696685hg38UCSC Ensembl
InnerchrX:6320011..6614726hg19UCSC Ensembl
InnerchrX:6330011..6624726hg18UCSC Ensembl
InnerchrX:6179747..6474462hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38294716
hg19294716
hg18294716
hg17294716
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161531
SamplesND02256
Known GenesVCX3A
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422493
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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