A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600290



Internal ID6987334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39714467..39716467hg38UCSC Ensembl
Innerchr4:39714467..39716467hg38UCSC Ensembl
Outerchr4:39714370..39716535hg38UCSC Ensembl
chr4:39716087..39718087hg19UCSC Ensembl
Innerchr4:39716087..39718087hg19UCSC Ensembl
Outerchr4:39715990..39718155hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11401414, essv11401413
SamplesNA19443, NA19440
Known GenesUBE2K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600290
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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