A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686891



Internal ID10103673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:117583992..117584187hg38UCSC Ensembl
Outerchr4:118505147..118505342hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728211, esv2728210
Supporting Variants
SamplesSSM035
Known Genes
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)essv6686891
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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