A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971719



Internal ID9726935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77490342..77490716hg38UCSC Ensembl
Outerchr18:75202298..75202672hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717456, esv2717388
Supporting Variants
SamplesSSM028
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)essv6971719
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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