A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662343



Internal ID9928448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:66838685..66838868hg38UCSC Ensembl
Outerchr5:66838648..66838918hg38UCSC Ensembl
Innerchr5:66134513..66134696hg19UCSC Ensembl
Outerchr5:66134476..66134746hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5574124
SamplesHG00463
Known GenesMAST4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662343
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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