A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672910



Internal ID9939015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99519468..99524678hg38UCSC Ensembl
chr6:99967344..99972554hg19UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg385211
hg195211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6335747
SamplesNA18501
Known GenesTSTD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672910
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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