A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11590643



Internal ID6451971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121769840..121771671hg38UCSC Ensembl
Innerchr4:121769840..121771671hg38UCSC Ensembl
Outerchr4:121769748..121771744hg38UCSC Ensembl
chr4:122690995..122692826hg19UCSC Ensembl
Innerchr4:122690995..122692826hg19UCSC Ensembl
Outerchr4:122690903..122692899hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381832
hg191832
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602015
Supporting Variants
SamplesNA20513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11590643
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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