A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004371



Internal ID6716495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1473940..1473940hg38UCSC Ensembl
chr10:1516135..1516135hg19UCSC Ensembl
chr10:1506135..1506135hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569263
SamplesHuRef
Known GenesADARB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004371
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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