A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720623



Internal ID10304259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118973228..118973396hg38UCSC Ensembl
Outerchr2:119730804..119730972hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781268
SamplesSSM068
Known GenesMARCO
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)esv2720623
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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