A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717656



Internal ID10129371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:75067301..75067940hg38UCSC Ensembl
Outerchr18:72779257..72779896hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38640
hg19640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717357, esv2717356
Supporting Variants
SamplesSSM043
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)essv6717656
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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