A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv34n140



Internal ID22810971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74289486..74289607hg38UCSC Ensembl
chr1:74755170..74755291hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3063359, nsv3057943
SamplesCHM1, NA12878
Known GenesFPGT-TNNI3K, TNNI3K
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)dgv34n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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