A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848376



Internal ID9662514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:9994229..10047891hg38UCSC Ensembl
Outerchr3:10035913..10089575hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3853663
hg1953663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724891
Supporting Variants
SamplesSSM011
Known GenesCIDECP, EMC3-AS1, FANCD2, LOC401052
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)essv6848376
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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