A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5421711



Internal ID8399114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21263806..21484288hg38UCSC Ensembl
Outerchr5:21263772..21484323hg38UCSC Ensembl
Innerchr5:21263915..21484397hg19UCSC Ensembl
Outerchr5:21263881..21484432hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38220552
hg19220552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669636
Supporting Variants
SamplesNA19395
Known GenesGUSBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5421711
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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