A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678560



Internal ID9597979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47710212..47710700hg38UCSC Ensembl
chr20:46338956..46339444hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5949595, essv6583829, essv5766750, essv5860154, essv5481010, essv6031610
SamplesNA19248, HG01488, NA19355, NA20332, NA19403, NA19448
Known GenesSULF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678560
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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