A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607420



Internal ID6994354
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1152e214
Supporting Variantsessv12119133, essv12119134
SamplesHG03709, HG01705
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607420
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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