A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630112



Internal ID4631928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129183201..129249654hg38UCSC Ensembl
chr12:129667746..129734199hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3866454
hg1966454
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631163
Supporting Variants
SamplesHG01894
Known GenesTMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630112
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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