A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741215



Internal ID10295331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:137595726..137600983hg38UCSC Ensembl
Outerchr3:137314568..137319825hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg385258
hg195258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv781e201
Supporting Variantsessv6723499
SamplesSSM007
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)esv2741215
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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