A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11739780



Internal ID844583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185520478..185522921hg38UCSC Ensembl
Innerchr4:185520478..185522921hg38UCSC Ensembl
Outerchr4:185520478..185522921hg38UCSC Ensembl
chr4:186441632..186444075hg19UCSC Ensembl
Innerchr4:186441632..186444075hg19UCSC Ensembl
Outerchr4:186441632..186444075hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382444
hg192444
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603505
Supporting Variants
SamplesHG00442
Known GenesPDLIM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11739780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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