A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1456n140



Internal ID22812393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40118537..40118637hg38UCSC Ensembl
chr8:39976056..39976156hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3058711, nsv3050716
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)dgv1456n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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