A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658877



Internal ID9578296
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 StatusM
Merged Variants
Supporting Variantsessv6497066, essv6228504, essv5421050, essv6594806, essv5447850, essv5931107, essv6423122, essv5429224, essv5601550, essv6173176, essv6055845, essv6445061, essv5610568, essv6239886, essv6337834
SamplesNA18599, NA19359, NA12341, HG00271, HG01067, HG00188, HG00731, HG00533, HG01390, HG01073, NA18963, NA19434, HG00357, NA19334, HG01191
Known GenesGALNT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658877
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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