A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945854



Internal ID10050770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:26593364..26593500hg38UCSC Ensembl
Outerchr18:24173328..24173464hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716887
Supporting Variants
SamplesSSM023
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)essv6945854
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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