A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659617



Internal ID9579036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94986583..94989574hg38UCSC Ensembl
chr5:94322287..94325278hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg382992
hg192992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6213656
SamplesNA18538
Known GenesMCTP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659617
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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