A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601304



Internal ID6988342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88422587..88426996hg38UCSC Ensembl
Innerchr4:88422591..88426992hg38UCSC Ensembl
Outerchr4:88422583..88427000hg38UCSC Ensembl
chr4:89343739..89348148hg19UCSC Ensembl
Innerchr4:89343743..89348144hg19UCSC Ensembl
Outerchr4:89343735..89348152hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384410
hg194410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11528419, essv11528416, essv11528418, essv11528417
SamplesNA20899, HG03895, HG03722, HG04225
Known GenesHERC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601304
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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