A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv271e201



Internal ID22759629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96708837..96709045hg38UCSC Ensembl
chr14:97175174..97175382hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2749068, esv2749070
SamplesSSM027, SSM045, SSM042, SSM044, SSM072
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)dgv271e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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