A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6829512



Internal ID10230043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51738620..51739103hg38UCSC Ensembl
Outerchr3:51772636..51773119hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725260
Supporting Variants
SamplesSSM081
Known Genes
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)essv6829512
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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