A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631311



Internal ID6671438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132713141..132737944hg38UCSC Ensembl
chr12:133289727..133314530hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3824804
hg1924804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14649895
SamplesNA18934
Known GenesANKLE2, PGAM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631311
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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