A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682311



Internal ID9748372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9887402..9887608hg38UCSC Ensembl
Outerchr18:9887399..9887605hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716777, esv2716778
Supporting Variants
SamplesSSM033
Known GenesTXNDC2
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)essv6682311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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