A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719435



Internal ID10303071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2768727..2768932hg38UCSC Ensembl
Outerchr2:2772499..2772704hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789442, essv6946736
SamplesSSM024, SSM070
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)esv2719435
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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