A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11913204



Internal ID6914888
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605123
Supporting Variants
SamplesNA21115
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11913204
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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