A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10899496



Internal ID901312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2170850..2224916hg38UCSC Ensembl
chr3:2212534..2266600hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3854067
hg1954067
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595016
Supporting Variants
SamplesHG04002
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10899496
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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