A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv683e214



Internal ID20122106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32712934..32716900hg38UCSC Ensembl
chr2:32938001..32941967hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383967
hg193967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590261, esv3590260
SamplesHG03279, NA18611
Known GenesTTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv683e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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