A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv272e201



Internal ID22759630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96708846..96709374hg38UCSC Ensembl
chr14:97175183..97175711hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2749069, esv2749071
SamplesSSM036, SSM071, SSM027, SSM046, SSM079, SSM013, SSM042, SSM023, SSM090, SSM047, SSM061, SSM089, SSM035, SSM032, SSM044, SSM086, SSM072, SSM016, SSM022, SSM043, SSM098
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)dgv272e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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