A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605123



Internal ID6992151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56638590..56642883hg38UCSC Ensembl
Innerchr5:56638606..56642867hg38UCSC Ensembl
Outerchr5:56638574..56642899hg38UCSC Ensembl
chr5:55934417..55938710hg19UCSC Ensembl
Innerchr5:55934433..55938694hg19UCSC Ensembl
Outerchr5:55934401..55938726hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384294
hg194294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11913203, essv11913204
SamplesNA21115, HG03850
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605123
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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