A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741429



Internal ID9975741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31578850..31579206hg38UCSC Ensembl
Outerchr1:32044451..32044807hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv17e201
Supporting Variantsessv6747797
SamplesSSM056
Known GenesTINAGL1
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)esv2741429
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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