A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667157



Internal ID2900244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:63212067..63212616hg38UCSC Ensembl
chr18:60879300..60879849hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6247628, essv6027763, essv5843365, essv6532984, essv6548186, essv6383443, essv5843390, essv6002868, essv5805000, essv6473522, essv6453726, essv5838174, essv5692636, essv5733872, essv5544384, essv5535343, essv6077615, essv5640522
SamplesNA20809, HG00328, HG00148, NA20778, NA07051, HG00554, HG01140, NA12282, HG00259, HG00141, NA11933, HG00282, HG01070, NA20581, NA20810, NA20792, HG00641, HG00312
Known GenesBCL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667157
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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