A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912314



Internal ID9675380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:94763121..94940097hg38UCSC Ensembl
Outerchr10:96522878..96699854hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38176977
hg19176977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739707
Supporting Variants
SamplesSSM015
Known GenesCYP2C19, CYP2C9
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6912314
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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