A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5610568



Internal ID8587971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132298656..132300770hg38UCSC Ensembl
chr12:132875242..132877356hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382115
hg192115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2658877
Supporting Variants
SamplesHG01390
Known GenesGALNT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5610568
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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