A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv694e214



Internal ID22756588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49955105..49965719hg38UCSC Ensembl
chr2:50182243..50192857hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3810615
hg1910615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590711, esv3590712
SamplesNA18627, NA20758
Known GenesNRXN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv694e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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