A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14560947



Internal ID4040430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87069233..87105701hg38UCSC Ensembl
chr12:87463010..87499478hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3836469
hg1936469
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630281
Supporting Variants
SamplesHG03689
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14560947
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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