A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735653



Internal ID9798215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8633876..8634789hg38UCSC Ensembl
Outerchr18:8633874..8634787hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38914
hg19914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716756
Supporting Variants
SamplesSSM049
Known GenesRAB12
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)essv6735653
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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