A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989229



Internal ID12626378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7904862..8052397hg38UCSC Ensembl
InnerchrX:7872903..8020438hg19UCSC Ensembl
InnerchrX:7832903..7980438hg18UCSC Ensembl
InnerchrX:7682639..7830174hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38147536
hg19147536
hg18147536
hg17147536
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752336
Supporting Variants
SamplesBEC_374
Known GenesPNPLA4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989229
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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