A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732517



Internal ID10316153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:8562549..8563319hg38UCSC Ensembl
Outerchr10:8604512..8605282hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755267, essv6894357, essv6819266, essv6735743, essv6912258, essv6944525, essv6737638, essv6919801, essv6897384, essv6768239, essv6948710, essv6765560, essv6850626, essv6958669
SamplesSSM024, SSM064, SSM050, SSM023, SSM058, SSM026, SSM017, SSM086, SSM007, SSM015, SSM078, SSM099, SSM098, SSM063
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)esv2732517
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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