A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672824



Internal ID9592243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20843890..20994015hg38UCSC Ensembl
chr12:20996824..21146949hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38150126
hg19150126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5591654, essv5521929, essv5515970, essv6570294, essv6544772, essv6363237, essv5462068, essv5948980, essv5416949, essv6302281
SamplesNA18523, NA18517, NA19108, NA12044, NA18956, NA18916, NA12006, NA12891, NA18582, NA11993
Known GenesSLCO1B3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672824
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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