A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674117



Internal ID9940222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8091911..8093353hg38UCSC Ensembl
chr19:8156795..8158237hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv618e199
Supporting Variantsessv6562395, essv6040090, essv6377365, essv6223574, essv6493463, essv5574399, essv5657067, essv6541906, essv6434428, essv6468241, essv5743716, essv6195485, essv5655745, essv6312681, essv6315407, essv6030064, essv6125839, essv5546117, essv5577723
SamplesNA18947, NA18526, NA12813, NA18944, NA18940, NA19131, NA18571, NA19137, NA19159, NA18973, NA11993, NA19152, NA12878, NA18579, NA18537, NA18573, NA12892, NA18943, NA18971
Known GenesFBN3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674117
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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