A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720022



Internal ID10303658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47084608..47084802hg38UCSC Ensembl
Outerchr2:47311747..47311941hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv595e201
Supporting Variantsessv6722295, essv6801845, essv6726145
SamplesSSM045, SSM046, SSM073
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)esv2720022
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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