A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725296



Internal ID9959601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:235135139..235135480hg38UCSC Ensembl
Outerchr1:235298454..235298795hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6753663
SamplesSSM058
Known GenesRBM34
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)esv2725296
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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