A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945878



Internal ID10050961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47401638..47401830hg38UCSC Ensembl
Outerchr18:44928009..44928201hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717048, esv2717043
Supporting Variants
SamplesSSM023
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)essv6945878
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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