A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422194



Internal ID7906291
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 StatusM
Merged Variants
Supporting Variantsessv5161344
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)esv2422194
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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