A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665405



Internal ID9931510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40393062..40397625hg38UCSC Ensembl
chr8:40250581..40255144hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384564
hg194564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6212413
SamplesNA19777
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665405
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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