A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880320



Internal ID10014079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172041280..172045598hg38UCSC Ensembl
Outerchr2:172906191..172910326hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384319
hg194136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721132
Supporting Variants
SamplesSSM012
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)essv6880320
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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