A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659978



Internal ID9926083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:58301092..58315979hg38UCSC Ensembl
Outerchr4:58300935..58316132hg38UCSC Ensembl
Innerchr4:59167258..59182145hg19UCSC Ensembl
Outerchr4:59167101..59182298hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3815198
hg1915198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6460227, essv5571379
SamplesNA20508, HG00282
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659978
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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