A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594889



Internal ID6635164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:210087..263700hg38UCSC Ensembl
chr3:251770..305383hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3853614
hg1953614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv852e214
Supporting Variantsessv10897461, essv10897460
SamplesNA19779, NA19780
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594889
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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