A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734617



Internal ID9968945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27505071..27506955hg38UCSC Ensembl
Outerchr10:27794000..27795884hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381885
hg191885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936229, essv6755282, essv6827368, essv6915848, essv6952889, essv6783209, essv6931481
SamplesSSM025, SSM020, SSM016, SSM003, SSM068, SSM058, SSM080
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)esv2734617
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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