A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630384



Internal ID3057369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129523693..129772441hg38UCSC Ensembl
chr12:130008238..130256986hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38248749
hg19248749
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631178
Supporting Variants
SamplesHG02687
Known GenesTMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630384
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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