A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742066



Internal ID9976350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1541750..1543002hg38UCSC Ensembl
Outerchr10:1583945..1585197hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78e201
Supporting Variantsessv6819235
SamplesSSM078
Known GenesADARB2, ADARB2-AS1
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)esv2742066
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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