A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946804



Internal ID9710496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54338381..54340298hg38UCSC Ensembl
Outerchr2:54565518..54567435hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381918
hg191918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720078, esv2720080
Supporting Variants
SamplesSSM024
Known GenesC2orf73
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)essv6946804
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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