A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730854



Internal ID9965171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143238954..143240278hg38UCSC Ensembl
Outerchr5:142618519..142619843hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381325
hg191325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833637
SamplesSSM082
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)esv2730854
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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