A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14547263



Internal ID4549079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79892650..79918166hg38UCSC Ensembl
chr12:80286430..80311946hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3825517
hg1925517
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630093
Supporting Variants
SamplesNA19315
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14547263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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