A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023528



Internal ID737153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113602638..113618282hg38UCSC Ensembl
Innerchr5:113602645..113618276hg38UCSC Ensembl
Outerchr5:113602632..113618289hg38UCSC Ensembl
chr5:112938335..112953979hg19UCSC Ensembl
Innerchr5:112938342..112953973hg19UCSC Ensembl
Outerchr5:112938329..112953986hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3815645
hg1915645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606319
Supporting Variants
SamplesHG00345
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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