A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000949



Internal ID7066078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68993337..68994285hg38UCSC Ensembl
Outerchr10:70753093..70754041hg19UCSC Ensembl
Outerchr10:70423099..70424047hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg384278
hg194278
hg184278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564098
SamplesHuRef
Known GenesKIAA1279
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000949
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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