A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604423



Internal ID4606239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111684168..111696825hg38UCSC Ensembl
chr12:112121972..112134629hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3812658
hg1912658
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630763
Supporting Variants
SamplesHG02816
Known GenesACAD10, BRAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604423
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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