A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621573



Internal ID4623389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123238339..123239588hg38UCSC Ensembl
Innerchr12:123238385..123239542hg38UCSC Ensembl
Outerchr12:123238293..123239634hg38UCSC Ensembl
chr12:123722886..123724135hg19UCSC Ensembl
Innerchr12:123722932..123724089hg19UCSC Ensembl
Outerchr12:123722840..123724181hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630986
Supporting Variants
SamplesNA18533
Known GenesC12orf65
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621573
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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