A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28e201



Internal ID22759386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99925031..99925243hg38UCSC Ensembl
chr1:100390587..100390799hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715296, esv2715307
SamplesSSM027, SSM087, SSM097, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM034
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)dgv28e201
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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