A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730141



Internal ID10313777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43516231..43516458hg38UCSC Ensembl
Outerchr5:43516333..43516560hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974346, essv6687050, essv6848749, essv6693914, essv6854875, essv6914890, essv6907260
SamplesSSM087, SSM029, SSM035, SSM014, SSM086, SSM016, SSM037
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)esv2730141
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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