A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668558



Internal ID9934663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41552944..41555769hg38UCSC Ensembl
chr19:42059314..42062139hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382826
hg192826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6553648, essv5750276, essv6460925, essv6435732, essv5398463, essv5895073, essv6021077, essv6135565
SamplesNA20813, NA07048, HG00139, NA11994, NA20828, HG00258, HG01489, HG00259
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668558
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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