A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6914611



Internal ID10025724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16217193..16222136hg38UCSC Ensembl
Outerchr4:16218816..16223759hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg384944
hg194944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727223
Supporting Variants
SamplesSSM016
Known GenesTAPT1
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)essv6914611
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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