A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732941



Internal ID10142842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26167777..26171317hg38UCSC Ensembl
Outerchr18:23747741..23751281hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg383541
hg193541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716880
Supporting Variants
SamplesSSM047
Known GenesPSMA8
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)essv6732941
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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