A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv684e214



Internal ID20122107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33491091..33502655hg38UCSC Ensembl
chr2:33716158..33727722hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3811565
hg1911565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590292, esv3590290
SamplesNA18552
Known GenesRASGRP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv684e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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