A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796753



Internal ID18825574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16266471..16354205hg38UCSC Ensembl
Innerchr12:16419405..16507139hg19UCSC Ensembl
Innerchr12:16310672..16398406hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3887735
hg1987735
hg1887735
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892149
Supporting Variants
Samples
Known GenesMGST1, SLC15A5
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=35
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796753
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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