A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14603926



Internal ID4605748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109485009..109700854hg38UCSC Ensembl
Innerchr12:109485159..109700704hg38UCSC Ensembl
Outerchr12:109484859..109701004hg38UCSC Ensembl
chr12:109922814..110138659hg19UCSC Ensembl
Innerchr12:109922964..110138509hg19UCSC Ensembl
Outerchr12:109922664..110138809hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38215846
hg19215846
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630719
Supporting Variants
SamplesHG02322
Known GenesMMAB, MVK, UBE3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14603926
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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