A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952889



Internal ID9714455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27505074..27506979hg38UCSC Ensembl
Outerchr10:27794003..27795908hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381906
hg191906
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734606, esv2734617
Supporting Variants
SamplesSSM025
Known GenesRAB18
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)essv6952889
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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