A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658293



Internal ID9577712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6372444..6373452hg38UCSC Ensembl
chr16:6422445..6423453hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6546969, essv5399235, essv5958895, essv5850705, essv6229732, essv5738080, essv6433339, essv6285780, essv6456608, essv5804084, essv6009591, essv5439393, essv6526847, essv6079550, essv6430250, essv5760341, essv5876635, essv6303378, essv5462726, essv6124712, essv6337934, essv6544301, essv6472965, essv5672439, essv5508378, essv6275646, essv6224130, essv5864619, essv5947547, essv5567868, essv5816699
SamplesNA11830, HG00536, NA18621, NA18616, HG00449, NA19443, NA18489, NA19723, NA19904, NA19917, NA18617, NA19722, NA19725, NA18990, HG00338, NA19921, NA19451, HG00188, NA19908, NA18538, NA19655, NA19003, HG00124, HG00265, NA19818, NA18631, NA19472, NA19713, NA19213, NA18983, NA19312
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658293
Frequency
Sample Size1151
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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