A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5677336



Internal ID9333706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109209905..109210375hg38UCSC Ensembl
chr12:109647710..109648180hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671931
Supporting Variants
SamplesNA18532
Known GenesACACB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5677336
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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