A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742707



Internal ID10296823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47084530..47084801hg38UCSC Ensembl
Outerchr2:47311669..47311940hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv595e201
Supporting Variantsessv6906401
SamplesSSM014
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)esv2742707
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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