A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv75e201



Internal ID20124962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1326718..1327062hg38UCSC Ensembl
chr10:1368913..1369257hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2729673, esv2729696
SamplesSSM027, SSM074, SSM040, SSM072, SSM078, SSM025
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)dgv75e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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