A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401414



Internal ID6042246
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600290
Supporting Variants
SamplesNA19443
Known GenesUBE2K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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