A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11401399



Internal ID394509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39706116..39710451hg38UCSC Ensembl
Innerchr4:39706116..39710451hg38UCSC Ensembl
Outerchr4:39705616..39710951hg38UCSC Ensembl
chr4:39707736..39712071hg19UCSC Ensembl
Innerchr4:39707736..39712071hg19UCSC Ensembl
Outerchr4:39707236..39712571hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384336
hg194336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600289
Supporting Variants
SamplesHG00116
Known GenesUBE2K
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11401399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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