A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828470



Internal ID9882420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26465861..26466241hg38UCSC Ensembl
Outerchr18:24045825..24046205hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716885
Supporting Variants
SamplesSSM080
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)essv6828470
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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