A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14395065



Internal ID5537929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15256596..15264661hg38UCSC Ensembl
Innerchr12:15256596..15264661hg38UCSC Ensembl
Outerchr12:15256344..15264827hg38UCSC Ensembl
chr12:15409530..15417595hg19UCSC Ensembl
Innerchr12:15409530..15417595hg19UCSC Ensembl
Outerchr12:15409278..15417761hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg388066
hg198066
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628664
Supporting Variants
SamplesNA19000
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14395065
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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