A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722419



Internal ID10133659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201281945..201284719hg38UCSC Ensembl
Outerchr2:202146668..202149442hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382775
hg192775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721364
Supporting Variants
SamplesSSM045
Known GenesCASP8
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)essv6722419
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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