A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606093



Internal ID6993029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104032124..104037271hg38UCSC Ensembl
Innerchr5:104032174..104037221hg38UCSC Ensembl
Outerchr5:104032064..104037331hg38UCSC Ensembl
chr5:103367825..103372972hg19UCSC Ensembl
Innerchr5:103367875..103372922hg19UCSC Ensembl
Outerchr5:103367765..103373032hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12004929, essv12004928, essv12004927
SamplesHG00699, HG00599, HG02402
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606093
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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