A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721497



Internal ID10305133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:220488230..220539559hg38UCSC Ensembl
Outerchr2:221352951..221404280hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3851330
hg1951330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797945
SamplesSSM072
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)esv2721497
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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