A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11446010



Internal ID3017811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:59826829..59834121hg38UCSC Ensembl
Innerchr4:59826829..59834121hg38UCSC Ensembl
Outerchr4:59826659..59834306hg38UCSC Ensembl
chr4:60692547..60699839hg19UCSC Ensembl
Innerchr4:60692547..60699839hg19UCSC Ensembl
Outerchr4:60692377..60700024hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg387293
hg197293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600654
Supporting Variants
SamplesHG02657
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11446010
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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