A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595027



Internal ID6635302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2310542..2364791hg38UCSC Ensembl
chr3:2352226..2406475hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3854250
hg1954250
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10899563, essv10899564
SamplesHG04002, NA18592
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595027
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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