A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729684



Internal ID9963999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1326813..1327601hg38UCSC Ensembl
Outerchr10:1369008..1369796hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38789
hg19789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894330, essv6681239, essv6819232, essv6806095, essv6681238, essv6965158, essv6952832, essv6799835, essv6716395, essv6952833
SamplesSSM027, SSM074, SSM033, SSM072, SSM078, SSM025, SSM043, SSM098
Known GenesADARB2
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)esv2729684
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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