A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630743



Internal ID7017558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110842176..110843689hg38UCSC Ensembl
Innerchr12:110842206..110843659hg38UCSC Ensembl
Outerchr12:110842146..110843719hg38UCSC Ensembl
chr12:111279980..111281493hg19UCSC Ensembl
Innerchr12:111280010..111281463hg19UCSC Ensembl
Outerchr12:111279950..111281523hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381514
hg191514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604149, essv14604150, essv14604148
SamplesHG02691, HG03874, HG03920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630743
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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