A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761500



Internal ID9821945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10462247..10463011hg38UCSC Ensembl
Outerchr18:10462244..10463008hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716786
Supporting Variants
SamplesSSM061
Known GenesAPCDD1
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)essv6761500
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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