A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv695e214



Internal ID22756589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:51460354..51559057hg38UCSC Ensembl
chr2:51687492..51786195hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3898704
hg1998704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590763, esv3590764
SamplesHG02804, NA20289
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv695e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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