A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852532



Internal ID9904074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77712739..77712817hg38UCSC Ensembl
Outerchr18:75424695..75424773hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717472, esv2717471, esv2717388, esv2717475
Supporting Variants
SamplesSSM086
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)essv6852532
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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