A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14611411



Internal ID4613227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117057357..117344956hg38UCSC Ensembl
Innerchr12:117057507..117344806hg38UCSC Ensembl
Outerchr12:117057207..117345106hg38UCSC Ensembl
chr12:117495162..117782761hg19UCSC Ensembl
Innerchr12:117495312..117782611hg19UCSC Ensembl
Outerchr12:117495012..117782911hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38287600
hg19287600
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630863
Supporting Variants
SamplesHG02322
Known GenesFBXO21, NOS1, TESC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14611411
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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