A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6844427



Internal ID10243466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190520245..190522797hg38UCSC Ensembl
Outerchr3:190238034..190240586hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382553
hg192553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726382
Supporting Variants
SamplesSSM085
Known GenesIL1RAP
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)essv6844427
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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