A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv104e201



Internal ID20124991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110720452..110720963hg38UCSC Ensembl
chr10:112480210..112480721hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740862, esv2740840
SamplesSSM022, SSM036, SSM040, SSM072, SSM020, SSM071, SSM032, SSM024, SSM067, SSM094, SSM011, SSM066, SSM069, SSM037, SSM087, SSM079, SSM068, SSM098, SSM018, SSM080
Known GenesRBM20
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)dgv104e201
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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