A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673440



Internal ID9592859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142878652..142916672hg38UCSC Ensembl
chr8:143960068..143998088hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838021
hg1938021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6041492, essv5887807, essv5999797, essv6450844, essv6374758, essv6130097, essv5942470
SamplesNA11920, NA19057, NA20798, HG01080, HG01048, NA18873, NA11843
Known GenesCYP11B1, CYP11B2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673440
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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