A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730103



Internal ID10313739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38821159..38821390hg38UCSC Ensembl
Outerchr5:38821261..38821492hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv939e201
Supporting Variantsessv6711629, essv6926597, essv6956616, essv6726665
SamplesSSM042, SSM026, SSM019, SSM007
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)esv2730103
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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