A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719824



Internal ID9954118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25457956..25461119hg38UCSC Ensembl
Outerchr2:25680825..25683988hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383164
hg193164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946778, essv6742366
SamplesSSM053, SSM024
Known GenesDTNB
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)esv2719824
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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