A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719727



Internal ID10303363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:15583055..15583729hg38UCSC Ensembl
Outerchr2:15723179..15723853hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38675
hg19675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846220
SamplesSSM011
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)esv2719727
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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