A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv22e214



Internal ID20121445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70885560..70901337hg38UCSC Ensembl
chr1:71351243..71367020hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3815778
hg1915778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3586368, esv3586367
SamplesHG00182, NA21124, HG00177, NA20908
Known GenesPTGER3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv22e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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