A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877238



Internal ID9926310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3568767..3571731hg38UCSC Ensembl
Outerchr18:3568765..3571729hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg382965
hg192965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716689
Supporting Variants
SamplesSSM092
Known GenesDLGAP1
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)essv6877238
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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