A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960574



Internal ID9716172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:5457135..5457194hg38UCSC Ensembl
Outerchr18:5457134..5457193hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716716, esv2716715
Supporting Variants
SamplesSSM026
Known GenesEPB41L3
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)essv6960574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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