A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11376077



Internal ID5679339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:27643062..27648118hg38UCSC Ensembl
Innerchr4:27643062..27648118hg38UCSC Ensembl
Outerchr4:27642700..27648382hg38UCSC Ensembl
chr4:27644684..27649740hg19UCSC Ensembl
Innerchr4:27644684..27649740hg19UCSC Ensembl
Outerchr4:27644322..27650004hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg385057
hg195057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600002
Supporting Variants
SamplesNA19080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11376077
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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