A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629396



Internal ID7016218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46074150..46090160hg38UCSC Ensembl
Innerchr12:46074165..46090145hg38UCSC Ensembl
Outerchr12:46074135..46090175hg38UCSC Ensembl
chr12:46467933..46483943hg19UCSC Ensembl
Innerchr12:46467948..46483928hg19UCSC Ensembl
Outerchr12:46467918..46483958hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3816011
hg1916011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14473772
SamplesNA18610
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629396
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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