A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721355



Internal ID10304991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199665585..199665755hg38UCSC Ensembl
Outerchr2:200530308..200530478hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872052, essv6955509, essv6906575, essv6683206, essv6859725, essv6926065, essv6968426, essv6902939, essv6669695
SamplesSSM013, SSM088, SSM028, SSM026, SSM019, SSM031, SSM014, SSM091, SSM034
Known Genes
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)esv2721355
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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