A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478854



Internal ID1892831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50272327..50274412hg38UCSC Ensembl
Innerchr12:50272377..50274362hg38UCSC Ensembl
Outerchr12:50272277..50274462hg38UCSC Ensembl
chr12:50666110..50668195hg19UCSC Ensembl
Innerchr12:50666160..50668145hg19UCSC Ensembl
Outerchr12:50666060..50668245hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382086
hg192086
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629477
Supporting Variants
SamplesHG01781
Known GenesLIMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478854
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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