A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661452



Internal ID9927557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66147807..66148344hg38UCSC Ensembl
chr5:65443635..65444172hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5777576, essv6501666, essv5471199
SamplesNA12717, NA20527, NA20786
Known GenesSREK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661452
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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