A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725168



Internal ID10308804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38877098..38877298hg38UCSC Ensembl
Outerchr3:38918589..38918789hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv769e201
Supporting Variantsessv6683290, essv6817222
SamplesSSM078, SSM034
Known GenesSCN11A
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)esv2725168
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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