A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892175



Internal ID18836309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32181558..32197769hg38UCSC Ensembl
Outerchr12:32181558..32197769hg38UCSC Ensembl
Innerchr12:32334492..32350703hg19UCSC Ensembl
Outerchr12:32334492..32350703hg19UCSC Ensembl
Innerchr12:32225759..32241970hg18UCSC Ensembl
Outerchr12:32225759..32241970hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3816212
hg1916212
hg1816212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782217
Samples
Known GenesBICD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892175
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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