A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717557



Internal ID9951848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78613692..78614278hg38UCSC Ensembl
Outerchr18:76373692..76374278hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38587
hg19587
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476e201
Supporting Variantsessv6804111, essv6753169, essv6874290
SamplesSSM073, SSM057, SSM091
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)esv2717557
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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