A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759366



Internal ID10166711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172907041..172907607hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg19567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721132, esv2721133
Supporting Variants
SamplesSSM061
Known GenesMETAP1D
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)essv6759366
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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