A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721400



Internal ID10305036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207425283..207425728hg38UCSC Ensembl
Outerchr2:208290007..208290452hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917893, essv6968430
SamplesSSM028, SSM017
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)esv2721400
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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