A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725839



Internal ID10309475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:123478811..123478910hg38UCSC Ensembl
Outerchr3:123197658..123197757hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669965, essv6864732
SamplesSSM089, SSM031
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)esv2725839
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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