A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605571



Internal ID6992509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80375441..80398258hg38UCSC Ensembl
Innerchr5:80375441..80398258hg38UCSC Ensembl
Outerchr5:80374941..80398758hg38UCSC Ensembl
chr5:79671260..79694077hg19UCSC Ensembl
Innerchr5:79671260..79694077hg19UCSC Ensembl
Outerchr5:79670760..79694577hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3822818
hg1922818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955709, essv11955707, essv11955708
SamplesHG03372, NA20819, NA20812
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605571
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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