A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11654207



Internal ID572587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151421545..151422412hg38UCSC Ensembl
Innerchr4:151421545..151422412hg38UCSC Ensembl
Outerchr4:151421266..151422631hg38UCSC Ensembl
chr4:152342697..152343564hg19UCSC Ensembl
Innerchr4:152342697..152343564hg19UCSC Ensembl
Outerchr4:152342418..152343783hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38868
hg19868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602685
Supporting Variants
SamplesHG00252
Known GenesFAM160A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11654207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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