A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722062



Internal ID9786651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:89133426..89186551hg38UCSC Ensembl
Outerchr1:89599109..89652234hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3853126
hg1953126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714562
Supporting Variants
SamplesSSM045
Known GenesGBP4, GBP7
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)essv6722062
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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