A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671124



Internal ID14754719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46444247..46444670hg38UCSC Ensembl
Innerchr3:46444408..46444509hg38UCSC Ensembl
Outerchr3:46444086..46444831hg38UCSC Ensembl
chr3:46485738..46486161hg19UCSC Ensembl
Innerchr3:46485899..46486000hg19UCSC Ensembl
Outerchr3:46485577..46486322hg19UCSC Ensembl
chr3:46460742..46461165hg18UCSC Ensembl
Innerchr3:46460903..46461004hg18UCSC Ensembl
Outerchr3:46460581..46461326hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38424
hg19424
hg18424
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3367734
Supporting Variants
SamplesNA19240
Known GenesLTF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671124
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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