A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679791



Internal ID10096109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:168385478..168385784hg38UCSC Ensembl
Outerchr3:168103266..168103572hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726175
Supporting Variants
SamplesSSM033
Known GenesEGFEM1P
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)essv6679791
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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