A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6921857



Internal ID9687843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161512744..161594505hg38UCSC Ensembl
Outerchr1:161482534..161564295hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881762
hg1981762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718873
Supporting Variants
SamplesSSM018
Known GenesFCGR2A, FCGR2C, FCGR3A, HSPA6
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)essv6921857
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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