A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6777567



Internal ID10183291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:190520201..190522756hg38UCSC Ensembl
Outerchr3:190237990..190240545hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg382556
hg192556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726382
Supporting Variants
SamplesSSM067
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)essv6777567
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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