A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1367n140



Internal ID22812304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:84080546..84080873hg38UCSC Ensembl
chr7:83709862..83710189hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3050665, nsv3058676
SamplesCHM1, NA12878
Known GenesSEMA3A
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)dgv1367n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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