A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11482039



Internal ID1483855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68509873..68625825hg38UCSC Ensembl
Innerchr4:68510373..68625325hg38UCSC Ensembl
Outerchr4:68508873..68626825hg38UCSC Ensembl
chr4:69375591..69491543hg19UCSC Ensembl
Innerchr4:69376091..69491043hg19UCSC Ensembl
Outerchr4:69374591..69492543hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38115953
hg19115953
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600874
Supporting Variants
SamplesHG00479
Known GenesUGT2B17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11482039
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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