A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11476688



Internal ID1478504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67487220..67488295hg38UCSC Ensembl
Innerchr4:67487220..67488295hg38UCSC Ensembl
Outerchr4:67486937..67488594hg38UCSC Ensembl
chr4:68352938..68354013hg19UCSC Ensembl
Innerchr4:68352938..68354013hg19UCSC Ensembl
Outerchr4:68352655..68354312hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600850
Supporting Variants
SamplesNA20896
Known GenesCENPC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11476688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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