A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602135



Internal ID6989169
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11596397, essv11596396
SamplesNA20531, HG01859
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602135
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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