A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11530360



Internal ID1309459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:89878732..89882859hg38UCSC Ensembl
Innerchr4:89878732..89882859hg38UCSC Ensembl
Outerchr4:89878559..89883025hg38UCSC Ensembl
chr4:90799883..90804010hg19UCSC Ensembl
Innerchr4:90799883..90804010hg19UCSC Ensembl
Outerchr4:90799710..90804176hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384128
hg194128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601328
Supporting Variants
SamplesHG01148
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11530360
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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