A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606282



Internal ID6646525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112003698..112013268hg38UCSC Ensembl
Innerchr5:112003715..112013252hg38UCSC Ensembl
Outerchr5:112003682..112013285hg38UCSC Ensembl
chr5:111339395..111348965hg19UCSC Ensembl
Innerchr5:111339412..111348949hg19UCSC Ensembl
Outerchr5:111339379..111348982hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg389571
hg199571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12022014, essv12022015
SamplesHG04063, NA19403
Known GenesNREP-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606282
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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