A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675697



Internal ID9746116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:2881635..2881775hg38UCSC Ensembl
Outerchr3:2923319..2923459hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724809
Supporting Variants
SamplesSSM032
Known GenesCNTN4
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)essv6675697
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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