A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780119



Internal ID18819936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132381904..132474050hg38UCSC Ensembl
Innerchr12:132958490..133050636hg19UCSC Ensembl
Innerchr12:131468563..131560709hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3892147
hg1992147
hg1892147
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892286
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780119
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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