A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716757



Internal ID9951046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8634156..8634258hg38UCSC Ensembl
Outerchr18:8634154..8634256hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6858370, essv6674385, essv6820557
SamplesSSM078, SSM031, SSM087
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)esv2716757
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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