A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667277



Internal ID9933382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8092083..8093528hg38UCSC Ensembl
chr19:8156967..8158412hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381446
hg191446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv618e199
Supporting Variantsessv6306903, essv6528297, essv5681950, essv6435395, essv6122539, essv5946221, essv6399167, essv6414241, essv6438406, essv5638899, essv6145219, essv5878037, essv5628536, essv6107913, essv5408030, essv5554433, essv6070456, essv6530291, essv5865129, essv5770857, essv6470862
SamplesHG00542, NA19066, HG00449, NA18633, HG00663, NA18940, NA18597, NA18982, NA18619, NA19088, NA19002, HG00427, HG00560, NA19082, HG00577, HG00583, NA18579, HG00704, NA18632, NA19078, HG00472
Known GenesFBN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667277
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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