A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv386e201



Internal ID20125273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89587516..89588459hg38UCSC Ensembl
chr16:89653924..89654867hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715176, esv2742902, esv2741482, esv2715178, esv2740858
SamplesSSM092, SSM082, SSM033, SSM084, SSM042, SSM089, SSM090, SSM035, SSM025, SSM016, SSM057, SSM032, SSM094, SSM083, SSM041, SSM093, SSM017, SSM066, SSM028, SSM029, SSM002, SSM087, SSM046, SSM023, SSM026, SSM018, SSM070
Known GenesCPNE7
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)dgv386e201
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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