A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv544e201



Internal ID20125431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56098545..56098819hg38UCSC Ensembl
chr19:56609914..56610188hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719012, esv2719011, esv2719014
SamplesSSM071, SSM046, SSM087, SSM042, SSM088, SSM029, SSM094, SSM086, SSM007, SSM037
Known GenesZNF787
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)dgv544e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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