A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv657e201



Internal ID22760015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51890693..51890904hg38UCSC Ensembl
chr20:50507232..50507443hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2722519, esv2722516
SamplesSSM024, SSM075, SSM011, SSM093, SSM042, SSM088, SSM041, SSM023, SSM018, SSM026, SSM094, SSM031, SSM044, SSM086, SSM033, SSM016, SSM037
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)dgv657e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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