A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714692



Internal ID10126704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230012488..230015427hg38UCSC Ensembl
Outerchr2:230877204..230880143hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg382940
hg192940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721590
Supporting Variants
SamplesSSM043
Known GenesFBXO36
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)essv6714692
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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