A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14469591



Internal ID5450567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45487210..45488761hg38UCSC Ensembl
Innerchr12:45487259..45488713hg38UCSC Ensembl
Outerchr12:45487162..45488810hg38UCSC Ensembl
chr12:45880993..45882544hg19UCSC Ensembl
Innerchr12:45881042..45882496hg19UCSC Ensembl
Outerchr12:45880945..45882593hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381552
hg191552
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629385
Supporting Variants
SamplesNA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14469591
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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