A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721477



Internal ID10305113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218035519..218069801hg38UCSC Ensembl
Outerchr2:218900242..218934524hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3834283
hg1934283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679613
SamplesSSM033
Known GenesCXCR2P1, RUFY4
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)esv2721477
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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