A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14584606



Internal ID6186610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98227537..98227851hg38UCSC Ensembl
Innerchr12:98227547..98227842hg38UCSC Ensembl
Outerchr12:98227528..98227861hg38UCSC Ensembl
chr12:98621315..98621629hg19UCSC Ensembl
Innerchr12:98621325..98621620hg19UCSC Ensembl
Outerchr12:98621306..98621639hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630501
Supporting Variants
SamplesNA19720
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14584606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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