A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603831



Internal ID6990862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2291639..2319430hg38UCSC Ensembl
Innerchr5:2291639..2319430hg38UCSC Ensembl
Outerchr5:2291139..2319930hg38UCSC Ensembl
chr5:2291753..2319544hg19UCSC Ensembl
Innerchr5:2291753..2319544hg19UCSC Ensembl
Outerchr5:2291253..2320044hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3827792
hg1927792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11788537
SamplesNA19761
Known GenesLOC100506858
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603831
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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