A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726487



Internal ID10310123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195714084..195714367hg38UCSC Ensembl
Outerchr3:195440955..195441238hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707871, essv6951282
SamplesSSM041, SSM025
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)esv2726487
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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