A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606358



Internal ID6993294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115067543..115073657hg38UCSC Ensembl
Innerchr5:115067543..115073657hg38UCSC Ensembl
Outerchr5:115067487..115073716hg38UCSC Ensembl
chr5:114403240..114409354hg19UCSC Ensembl
Innerchr5:114403240..114409354hg19UCSC Ensembl
Outerchr5:114403184..114409413hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg386115
hg196115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12026242
SamplesNA20801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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