A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595013



Internal ID6635288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2122694..2182386hg38UCSC Ensembl
chr3:2164378..2224070hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3859693
hg1959693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10899184, essv10899183
SamplesHG04002, HG02221
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595013
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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