A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594894



Internal ID6635169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:242814..379641hg38UCSC Ensembl
chr3:284497..421324hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38136828
hg19136828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10897469
SamplesHG00264
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594894
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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