A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12119133



Internal ID1837930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162183062..162214513hg38UCSC Ensembl
Innerchr5:162183065..162214510hg38UCSC Ensembl
Outerchr5:162183059..162214516hg38UCSC Ensembl
chr5:161610068..161641519hg19UCSC Ensembl
Innerchr5:161610071..161641516hg19UCSC Ensembl
Outerchr5:161610065..161641522hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3831452
hg1931452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607420
Supporting Variants
SamplesHG01705
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12119133
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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