A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14565598



Internal ID3425288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89027434..89028678hg38UCSC Ensembl
Innerchr12:89027443..89028670hg38UCSC Ensembl
Outerchr12:89027426..89028687hg38UCSC Ensembl
chr12:89421211..89422455hg19UCSC Ensembl
Innerchr12:89421220..89422447hg19UCSC Ensembl
Outerchr12:89421203..89422464hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg381245
hg191245
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630311
Supporting Variants
SamplesHG03061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14565598
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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