A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663844



Internal ID9929949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130047909..130048058hg38UCSC Ensembl
Outerchr5:130047752..130048211hg38UCSC Ensembl
Innerchr5:129383602..129383751hg19UCSC Ensembl
Outerchr5:129383445..129383904hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38460
hg19460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5427857, essv5799477, essv6192661, essv6185908, essv5867189, essv5406156, essv5779854, essv6180452
SamplesNA18502, HG01461, NA19901, NA18520, NA18856, NA19099, NA19147, NA19434
Known GenesCHSY3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663844
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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