A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1035n140



Internal ID22811972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99101898..99102234hg38UCSC Ensembl
chr4:100023049..100023385hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3049921, nsv3057941
SamplesCHM1, NA12878
Known GenesLOC100507053
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)dgv1035n140
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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