A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11596397



Internal ID6496196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:126684104..126815147hg38UCSC Ensembl
Innerchr4:126684604..126814647hg38UCSC Ensembl
Outerchr4:126683104..126816147hg38UCSC Ensembl
chr4:127605259..127736302hg19UCSC Ensembl
Innerchr4:127605759..127735802hg19UCSC Ensembl
Outerchr4:127604259..127737302hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38131044
hg19131044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602135
Supporting Variants
SamplesNA20531
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11596397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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