A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699980



Internal ID9769445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79521012..79521327hg38UCSC Ensembl
Outerchr2:79748138..79748453hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720256
Supporting Variants
SamplesSSM039
Known GenesCTNNA2
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)essv6699980
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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