A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729906



Internal ID9793711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999404..33002196hg38UCSC Ensembl
Outerchr2:33224471..33227263hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382793
hg192793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719883
Supporting Variants
SamplesSSM047
Known GenesLTBP1
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)essv6729906
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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