A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8e214



Internal ID22755902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13985103..14046537hg38UCSC Ensembl
chr1:14311598..14373032hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3861435
hg1961435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585271, esv3585270, esv3585272
SamplesNA18861, HG03130, NA18618
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv8e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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