A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv196e201



Internal ID22759554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102848256..102848834hg38UCSC Ensembl
chr12:103242034..103242612hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743325, esv2742171, esv2746288, esv2741620
SamplesSSM064, SSM028, SSM084, SSM081
Known GenesPAH
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)dgv196e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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