A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10899614



Internal ID901430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2462723..2486542hg38UCSC Ensembl
chr3:2504407..2528226hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3823820
hg1923820
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595032
Supporting Variants
SamplesHG04002
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10899614
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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