A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1227n140



Internal ID22812164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2605287..2605353hg38UCSC Ensembl
chr6:2605521..2605587hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3060181, nsv3050071
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)dgv1227n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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