A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607103



Internal ID6994038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148149372..148150238hg38UCSC Ensembl
Innerchr5:148149388..148150223hg38UCSC Ensembl
Outerchr5:148149357..148150254hg38UCSC Ensembl
chr5:147528935..147529801hg19UCSC Ensembl
Innerchr5:147528951..147529786hg19UCSC Ensembl
Outerchr5:147528920..147529817hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12092637
SamplesHG00428
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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