A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358507



Internal ID14858769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38769241..38769255hg38UCSC Ensembl
Innerchr3:38769243..38769253hg38UCSC Ensembl
Outerchr3:38769239..38769257hg38UCSC Ensembl
chr3:38810732..38810746hg19UCSC Ensembl
Innerchr3:38810734..38810744hg19UCSC Ensembl
Outerchr3:38810730..38810748hg19UCSC Ensembl
chr3:38785736..38785750hg18UCSC Ensembl
Innerchr3:38785738..38785748hg18UCSC Ensembl
Outerchr3:38785734..38785752hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864123
SamplesNA12005
Known GenesSCN10A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358507
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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