A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv742e214



Internal ID22756636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147755217..147760020hg38UCSC Ensembl
chr2:148512786..148517589hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg384804
hg194804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3592825, esv3592826
SamplesNA19355, HG02146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv742e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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