A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14601563



Internal ID4681372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105952284..105953951hg38UCSC Ensembl
Innerchr12:105952305..105953931hg38UCSC Ensembl
Outerchr12:105952264..105953972hg38UCSC Ensembl
chr12:106346062..106347729hg19UCSC Ensembl
Innerchr12:106346083..106347709hg19UCSC Ensembl
Outerchr12:106346042..106347750hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381668
hg191668
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630675
Supporting Variants
SamplesHG04206
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14601563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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