A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630749



Internal ID6670883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111073845..111074480hg38UCSC Ensembl
Innerchr12:111073901..111074425hg38UCSC Ensembl
Outerchr12:111073790..111074536hg38UCSC Ensembl
chr12:111511649..111512284hg19UCSC Ensembl
Innerchr12:111511705..111512229hg19UCSC Ensembl
Outerchr12:111511594..111512340hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604195, essv14604189, essv14604194, essv14604182, essv14604197, essv14604207, essv14604196, essv14604183, essv14604192, essv14604190, essv14604193, essv14604186, essv14604184, essv14604205, essv14604191, essv14604199, essv14604198, essv14604188, essv14604202, essv14604206, essv14604185, essv14604201, essv14604187, essv14604203, essv14604200, essv14604204
SamplesNA19248, NA19030, HG03354, HG02330, HG03280, HG03112, HG03196, NA19451, HG02887, HG03048, NA18873, HG02895, NA19917, HG00237, NA19393, NA18510, HG02479, HG02484, HG02947, NA19403, HG03172, NA18879, NA18924, NA19198, NA18853, HG02839
Known GenesCUX2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630749
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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