A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730443



Internal ID10314079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88032835..88033016hg38UCSC Ensembl
Outerchr5:87328652..87328833hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817946, essv6974412, essv6956657, essv6670817, essv6860560, essv6886844, essv6848794, essv6907304, essv6854919
SamplesSSM087, SSM088, SSM029, SSM096, SSM026, SSM031, SSM014, SSM086, SSM078
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)esv2730443
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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