A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv564n140



Internal ID22811501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6030253..6030605hg38UCSC Ensembl
chr17:5933573..5933925hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3062938, nsv3057230
SamplesCHM1, NA12878
Known Genes
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)dgv564n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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