A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716690



Internal ID9950978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3635213..3636934hg38UCSC Ensembl
Outerchr18:3635212..3636933hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381722
hg191722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668595, essv6820548
SamplesSSM078, SSM030
Known GenesDLGAP1
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)esv2716690
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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