A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730137



Internal ID10313773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43197957..43198440hg38UCSC Ensembl
Outerchr5:43198059..43198542hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934460
SamplesSSM021
Known GenesNIM1
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)esv2730137
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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