A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669651



Internal ID10087811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168730555..168731644hg38UCSC Ensembl
Outerchr2:169587065..169588154hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381090
hg191090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721105
Supporting Variants
SamplesSSM031
Known GenesCERS6
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)essv6669651
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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