A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606800



Internal ID6993735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132038162..132059113hg38UCSC Ensembl
Innerchr5:132038312..132058963hg38UCSC Ensembl
Outerchr5:132038012..132059263hg38UCSC Ensembl
chr5:131373855..131394806hg19UCSC Ensembl
Innerchr5:131374005..131394656hg19UCSC Ensembl
Outerchr5:131373705..131394956hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3820952
hg1920952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12064307
SamplesHG03445
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606800
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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