A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14333098



Internal ID4334914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:964364..970109hg38UCSC Ensembl
Innerchr12:964386..970088hg38UCSC Ensembl
Outerchr12:964343..970131hg38UCSC Ensembl
chr12:1073530..1079275hg19UCSC Ensembl
Innerchr12:1073552..1079254hg19UCSC Ensembl
Outerchr12:1073509..1079297hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385746
hg195746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628266
Supporting Variants
SamplesNA19332
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14333098
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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