A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730287



Internal ID9964603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:68810140..68810304hg38UCSC Ensembl
Outerchr5:68105967..68106131hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv944e201
Supporting Variantsessv6719206
SamplesSSM044
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)esv2730287
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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