A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603970



Internal ID6991000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9232984..9271979hg38UCSC Ensembl
Innerchr5:9232984..9271979hg38UCSC Ensembl
Outerchr5:9232484..9272479hg38UCSC Ensembl
chr5:9233096..9272091hg19UCSC Ensembl
Innerchr5:9233096..9272091hg19UCSC Ensembl
Outerchr5:9232596..9272591hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3838996
hg1938996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11807128
SamplesHG04099
Known GenesSEMA5A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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