A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730831



Internal ID9965148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:140709305..140717573hg38UCSC Ensembl
Outerchr5:140088890..140097158hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388269
hg198269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711694, essv6683872
SamplesSSM042, SSM034
Known GenesVTRNA1-1
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)esv2730831
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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