A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400252



Internal ID14900529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49034443..49034455hg38UCSC Ensembl
Innerchr3:49034420..49034478hg38UCSC Ensembl
Outerchr3:49034408..49034490hg38UCSC Ensembl
chr3:49071876..49071888hg19UCSC Ensembl
Innerchr3:49071853..49071911hg19UCSC Ensembl
Outerchr3:49071841..49071923hg19UCSC Ensembl
chr3:49046880..49046892hg18UCSC Ensembl
Innerchr3:49046915..49046857hg18UCSC Ensembl
Outerchr3:49046845..49046927hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864130
SamplesNA12005
Known GenesQRICH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400252
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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