A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590167



Internal ID6630454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28971589..29053949hg38UCSC Ensembl
chr2:29194455..29276815hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3882361
hg1982361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438526
SamplesNA18579
Known GenesFAM179A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590167
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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