A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780949



Internal ID18815642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:16339581..16384735hg38UCSC Ensembl
Innerchr12:16492515..16537669hg19UCSC Ensembl
Innerchr12:16383782..16428936hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3845155
hg1945155
hg1845155
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892150
Supporting Variants
Samples
Known GenesMGST1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=45
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780949
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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