A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602679



Internal ID6642935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151281489..151287564hg38UCSC Ensembl
Innerchr4:151281490..151287563hg38UCSC Ensembl
Outerchr4:151281488..151287565hg38UCSC Ensembl
chr4:152202641..152208716hg19UCSC Ensembl
Innerchr4:152202642..152208715hg19UCSC Ensembl
Outerchr4:152202640..152208717hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386076
hg196076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11653438, essv11653442, essv11653433, essv11653434, essv11653443, essv11653441, essv11653440, essv11653435, essv11653439, essv11653436, essv11653437
SamplesHG04061, HG04098, HG03971, NA21143, HG03998, HG03974, HG03873, HG04162, HG04022, HG01586, HG03857
Known GenesPRSS48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602679
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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