A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv722e214



Internal ID22756616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101513046..101525283hg38UCSC Ensembl
chr2:102129508..102141745hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3812238
hg1912238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591772, esv3591771
SamplesHG00626, HG00403, NA20346, NA20340, HG01807
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv722e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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