A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547265



Internal ID4549081
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630094
Supporting Variants
SamplesHG01110
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547265
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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