A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981262



Internal ID12626371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:7919953..8063263hg38UCSC Ensembl
InnerchrX:7887994..8031304hg19UCSC Ensembl
InnerchrX:7847994..7991304hg18UCSC Ensembl
InnerchrX:7697730..7841040hg17UCSC Ensembl
CytobandXp22.31
Allele length
AssemblyAllele length
hg38143311
hg19143311
hg18143311
hg17143311
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981262
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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