A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv200e201



Internal ID22759558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114241796..114242285hg38UCSC Ensembl
chr12:114679601..114680090hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746402, esv2746404, esv2746403
SamplesSSM045, SSM079, SSM097, SSM039, SSM013, SSM009, SSM073, SSM088, SSM028, SSM092, SSM084, SSM047, SSM029, SSM026, SSM017, SSM035, SSM094, SSM032, SSM085, SSM068, SSM040, SSM037, SSM022, SSM010, SSM070, SSM095, SSM052, SSM098, SSM056, SSM012
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)dgv200e201
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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