A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14476866



Internal ID4478683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49211005..49212288hg38UCSC Ensembl
Innerchr12:49211055..49212238hg38UCSC Ensembl
Outerchr12:49210955..49212338hg38UCSC Ensembl
chr12:49604788..49606071hg19UCSC Ensembl
Innerchr12:49604838..49606021hg19UCSC Ensembl
Outerchr12:49604738..49606121hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381284
hg191284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629450
Supporting Variants
SamplesNA20790
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14476866
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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