A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630094



Internal ID6670232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79908944..79910267hg38UCSC Ensembl
Innerchr12:79908974..79910238hg38UCSC Ensembl
Outerchr12:79908915..79910297hg38UCSC Ensembl
chr12:80302724..80304047hg19UCSC Ensembl
Innerchr12:80302754..80304018hg19UCSC Ensembl
Outerchr12:80302695..80304077hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381324
hg191324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14547264, essv14547265, essv14547266
SamplesNA19072, HG00111, HG01110
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630094
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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