A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725169



Internal ID10308805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38877101..38877326hg38UCSC Ensembl
Outerchr3:38918592..38918817hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv769e201
Supporting Variantsessv6673121, essv6700209, essv6859853, essv6942437
SamplesSSM039, SSM088, SSM023, SSM005
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)esv2725169
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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