A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv712e214



Internal ID20122135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86054752..86165643hg38UCSC Ensembl
chr2:86281875..86392766hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38110892
hg19110892
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3591539, esv3591541
SamplesHG00246, HG01479
Known GenesIMMT, POLR1A, PTCD3, SNORD94
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv712e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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