A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547760



Internal ID4711891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79958426..79960603hg38UCSC Ensembl
Innerchr12:79958488..79960542hg38UCSC Ensembl
Outerchr12:79958365..79960665hg38UCSC Ensembl
chr12:80352206..80354383hg19UCSC Ensembl
Innerchr12:80352268..80354322hg19UCSC Ensembl
Outerchr12:80352145..80354445hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382178
hg192178
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630097
Supporting Variants
SamplesHG04229
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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