A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599547



Internal ID6986593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8482598..8488836hg38UCSC Ensembl
Innerchr4:8483098..8488336hg38UCSC Ensembl
Outerchr4:8481598..8489836hg38UCSC Ensembl
chr4:8484325..8490563hg19UCSC Ensembl
Innerchr4:8484825..8490063hg19UCSC Ensembl
Outerchr4:8483325..8491563hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg386239
hg196239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337982
SamplesNA20845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599547
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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