A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5850254



Internal ID9594813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138729985..138740711hg38UCSC Ensembl
Outerchr5:138729948..138740761hg38UCSC Ensembl
Innerchr5:138065674..138076400hg19UCSC Ensembl
Outerchr5:138065637..138076450hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3810814
hg1910814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657765
Supporting Variants
SamplesNA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5850254
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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