A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161307



Internal ID8252721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:116642574..116786956hg38UCSC Ensembl
InnerchrX:115776542..115920924hg19UCSC Ensembl
InnerchrX:115660570..115804952hg18UCSC Ensembl
InnerchrX:115558424..115702806hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38144383
hg19144383
hg18144383
hg17144383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422422
Supporting Variants
SamplesND01679
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161307
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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