A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603108



Internal ID6643364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168754576..168755948hg38UCSC Ensembl
Innerchr4:168754597..168755927hg38UCSC Ensembl
Outerchr4:168754555..168755969hg38UCSC Ensembl
chr4:169675727..169677099hg19UCSC Ensembl
Innerchr4:169675748..169677078hg19UCSC Ensembl
Outerchr4:169675706..169677120hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11687752, essv11687750, essv11687751, essv11687749
SamplesHG02155, NA18574, HG00443, HG01800
Known GenesPALLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603108
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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