A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380897



Internal ID14881172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133755418..133757416hg38UCSC Ensembl
Innerchr3:133756416..133756418hg38UCSC Ensembl
Outerchr3:133754418..133758416hg38UCSC Ensembl
chr3:133474262..133476260hg19UCSC Ensembl
Innerchr3:133475260..133475262hg19UCSC Ensembl
Outerchr3:133473262..133477260hg19UCSC Ensembl
chr3:134956952..134958950hg18UCSC Ensembl
Innerchr3:134957952..134957950hg18UCSC Ensembl
Outerchr3:134955952..134959950hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693848
SamplesNA19239
Known GenesTF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380897
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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