A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310506



Internal ID14810771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1473946..1473946hg38UCSC Ensembl
Outerchr10:1473946..1473946hg38UCSC Ensembl
Innerchr10:1516141..1516141hg19UCSC Ensembl
Outerchr10:1516141..1516141hg19UCSC Ensembl
Innerchr10:1506141..1506141hg18UCSC Ensembl
Outerchr10:1506141..1506141hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843379
SamplesNA12878
Known GenesADARB2
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310506
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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