A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8477n152



Internal ID22824180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37437674..37438002hg38UCSC Ensembl
chr7:37477277..37477605hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3187273, nsv3189807
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesELMO1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv8477n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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