A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547927



Internal ID3144286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80042147..80044749hg38UCSC Ensembl
Innerchr12:80042151..80044746hg38UCSC Ensembl
Outerchr12:80042144..80044753hg38UCSC Ensembl
chr12:80435927..80438529hg19UCSC Ensembl
Innerchr12:80435931..80438526hg19UCSC Ensembl
Outerchr12:80435924..80438533hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382603
hg192603
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630099
Supporting Variants
SamplesHG02771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547927
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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