A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717658



Internal ID9951949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79585415..79585884hg38UCSC Ensembl
Outerchr18:77345415..77345884hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6812943, essv6950002
SamplesSSM024, SSM009
Known Genes
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)esv2717658
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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