A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621576



Internal ID5540726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123353393..123354230hg38UCSC Ensembl
Innerchr12:123353393..123354230hg38UCSC Ensembl
Outerchr12:123353104..123354498hg38UCSC Ensembl
chr12:123837940..123838777hg19UCSC Ensembl
Innerchr12:123837940..123838777hg19UCSC Ensembl
Outerchr12:123837651..123839045hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630987
Supporting Variants
SamplesNA19001
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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