A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717503



Internal ID9951794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78262203..78262372hg38UCSC Ensembl
Outerchr18:76022203..76022372hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960711, essv6941258, essv6902075
SamplesSSM026, SSM022, SSM012
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)esv2717503
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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