A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730514



Internal ID10314150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:100272429..100272764hg38UCSC Ensembl
Outerchr5:99608133..99608468hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848810, essv6676888, essv6969168, essv6798647, essv6683841, essv6670836, essv6886857, essv6922868, essv6704831, essv6693961, essv6860577, essv6826191, essv6726945, essv6786199, essv6680225, essv6899535, essv6700838, essv6833608, essv6947622, essv6907316
SamplesSSM100, SSM024, SSM046, SSM039, SSM088, SSM028, SSM018, SSM069, SSM096, SSM031, SSM014, SSM086, SSM033, SSM040, SSM072, SSM082, SSM005, SSM080, SSM037, SSM034
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)esv2730514
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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