A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649895



Internal ID4651711
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631311
Supporting Variants
SamplesNA18934
Known GenesANKLE2, PGAM5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649895
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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