A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000190



Internal ID1843004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:75258678..75263194hg19UCSC Ensembl
Outerchr9:74448498..74453014hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg192648
hg182648
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3565717
SamplesHuRef
Known GenesTMC1
Method
Analysis
PlatformSanger Sequencing + Illumina Human1Mv1 BeadChip + Agilent Custom 244K CGH Array + Affymetrix Genome-Wide Human SNP 6.0 Array + NimbleGen 42M CGH Array + Agilent Custom 24M CGH Array
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000190
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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