A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606791



Internal ID6993726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131275265..131282333hg38UCSC Ensembl
Innerchr5:131275276..131282323hg38UCSC Ensembl
Outerchr5:131275255..131282344hg38UCSC Ensembl
chr5:130610958..130618026hg19UCSC Ensembl
Innerchr5:130610969..130618016hg19UCSC Ensembl
Outerchr5:130610948..130618037hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg387069
hg197069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12062560
SamplesHG01435
Known GenesCDC42SE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606791
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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