A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630860



Internal ID7017674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116886270..116888310hg38UCSC Ensembl
Innerchr12:116886299..116888281hg38UCSC Ensembl
Outerchr12:116886241..116888339hg38UCSC Ensembl
chr12:117324075..117326115hg19UCSC Ensembl
Innerchr12:117324104..117326086hg19UCSC Ensembl
Outerchr12:117324046..117326144hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382041
hg192041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14611404, essv14611405
SamplesNA20846, NA20852
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630860
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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