A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601717



Internal ID6988753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:108325214..108330229hg38UCSC Ensembl
Innerchr4:108325214..108330229hg38UCSC Ensembl
Outerchr4:108324918..108330308hg38UCSC Ensembl
chr4:109246370..109251385hg19UCSC Ensembl
Innerchr4:109246370..109251385hg19UCSC Ensembl
Outerchr4:109246074..109251464hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385016
hg195016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11558074, essv11558079, essv11558077, essv11558075, essv11558078, essv11558072, essv11558073, essv11558076, essv11558081, essv11558080, essv11558082
SamplesHG03572, HG03225, HG03343, HG03054, HG03575, HG01889, HG03123, HG03258, HG03077, HG03445, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601717
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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