A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892189



Internal ID18836323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40145056..40165260hg38UCSC Ensembl
Outerchr12:40126882..40173845hg38UCSC Ensembl
Innerchr12:40538858..40559062hg19UCSC Ensembl
Outerchr12:40520684..40567647hg19UCSC Ensembl
Innerchr12:38825125..38845329hg18UCSC Ensembl
Outerchr12:38806951..38853914hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3846964
hg1946964
hg1846964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787368, essv25787184
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892189
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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