A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv618e199



Internal ID22758391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8091911..8093528hg38UCSC Ensembl
chr19:8156795..8158412hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667277, esv2674117
SamplesHG00542, NA18947, NA19066, HG00449, NA18526, NA18633, NA12813, HG00663, NA18944, NA18940, NA18597, NA18982, NA18619, NA19131, NA19088, NA18571, NA19137, NA19159, NA19002, HG00427, NA18973, NA11993, HG00560, NA19082, NA19152, NA12878, HG00577, HG00583, NA18579, NA18537, NA18573, NA12892, HG00704, NA18632, NA18943, NA19078, NA18971, HG00472
Known GenesFBN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv618e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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