A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786666



Internal ID19179248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128471153..128481784hg38UCSC Ensembl
Innerchr12:128955698..128966329hg19UCSC Ensembl
Innerchr12:127521651..127532282hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810632
hg1910632
hg1810632
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892275
Supporting Variants
Samples
Known GenesTMEM132C
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786666
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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