A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11592733



Internal ID6360260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124351493..124363176hg38UCSC Ensembl
Innerchr4:124351493..124363176hg38UCSC Ensembl
Outerchr4:124350993..124363676hg38UCSC Ensembl
chr4:125272648..125284331hg19UCSC Ensembl
Innerchr4:125272648..125284331hg19UCSC Ensembl
Outerchr4:125272148..125284831hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3811684
hg1911684
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602062
Supporting Variants
SamplesNA20291
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11592733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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