A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv744e214



Internal ID20122167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151196133..151275493hg38UCSC Ensembl
chr2:152052647..152132007hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3879361
hg1979361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3592915, esv3592914
SamplesNA19355, HG01599
Known GenesNMI, RBM43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv744e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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