A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731310



Internal ID10314946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179849670..179850097hg38UCSC Ensembl
Outerchr5:179276670..179277097hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903620, essv6938878, essv6715393, essv6844799, essv6774512, essv6926679, essv6805313, essv6694039, essv6808300, essv6872633, essv6887130, essv6798720, essv6963534, essv6951758, essv6782071, essv6947688
SamplesSSM027, SSM024, SSM075, SSM013, SSM074, SSM019, SSM066, SSM085, SSM068, SSM072, SSM037, SSM022, SSM091, SSM025, SSM043, SSM012
Known GenesC5orf45
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)esv2731310
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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