A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594021



Internal ID6981342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203899348..203909819hg38UCSC Ensembl
chr2:204764071..204774542hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3810472
hg1910472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10825360
SamplesHG01440
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594021
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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