A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605094



Internal ID6992122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55084515..55091098hg38UCSC Ensembl
Innerchr5:55084515..55091098hg38UCSC Ensembl
Outerchr5:55084019..55091372hg38UCSC Ensembl
chr5:54380343..54386926hg19UCSC Ensembl
Innerchr5:54380343..54386926hg19UCSC Ensembl
Outerchr5:54379847..54387200hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386584
hg196584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11904144, essv11904145, essv11904147, essv11904142, essv11904146, essv11904149, essv11904148, essv11904143
SamplesNA18507, HG01461, HG02879, HG02817, HG02884, HG02282, NA19143, HG02410
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605094
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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