A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1370e214



Internal ID20122793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8851973..8899115hg38UCSC Ensembl
chr8:8709483..8756625hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3847143
hg1947143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616150, esv3616151
SamplesHG01521, HG01107, NA18965
Known GenesMFHAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1370e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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