A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6767931



Internal ID9636777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26465630..26466376hg38UCSC Ensembl
Outerchr18:24045594..24046340hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716885
Supporting Variants
SamplesSSM001
Known GenesKCTD1
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)essv6767931
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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