A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14486732



Internal ID6331661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56513875..56516586hg38UCSC Ensembl
Innerchr12:56513887..56516575hg38UCSC Ensembl
Outerchr12:56513864..56516598hg38UCSC Ensembl
chr12:56907659..56910370hg19UCSC Ensembl
Innerchr12:56907671..56910359hg19UCSC Ensembl
Outerchr12:56907648..56910382hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg382712
hg192712
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629599
Supporting Variants
SamplesNA19923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14486732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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