A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604420



Internal ID6991449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:25488510..25494246hg38UCSC Ensembl
Innerchr5:25488542..25494215hg38UCSC Ensembl
Outerchr5:25488479..25494278hg38UCSC Ensembl
chr5:25488619..25494355hg19UCSC Ensembl
Innerchr5:25488651..25494324hg19UCSC Ensembl
Outerchr5:25488588..25494387hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg385737
hg195737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11844992
SamplesNA20881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604420
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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