A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161344



Internal ID7906058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7481793..8034821hg38UCSC Ensembl
InnerchrX:7399834..8002862hg19UCSC Ensembl
InnerchrX:7409834..7962862hg18UCSC Ensembl
InnerchrX:7259570..7812598hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38553029
hg19603029
hg18553029
hg17553029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422194
Supporting Variants
SamplesND04296
Known GenesPNPLA4, VCX
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161344
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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