A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658080



Internal ID9577499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168797160..168797967hg38UCSC Ensembl
chr4:169718311..169719118hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5752491, essv6583029
SamplesNA19474, NA19704
Known GenesPALLD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658080
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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