A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778577



Internal ID19161583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33945653..33958854hg38UCSC Ensembl
Innerchr5:33945758..33958959hg19UCSC Ensembl
Innerchr5:33981515..33994716hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3813202
hg1913202
hg1813202
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894173
Supporting Variants
Samples
Known GenesSLC45A2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778577
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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