A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657391



Internal ID9923496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68506698..68625204hg38UCSC Ensembl
Outerchr4:68506327..68625574hg38UCSC Ensembl
Innerchr4:69372416..69490922hg19UCSC Ensembl
Outerchr4:69372045..69491292hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38119248
hg19119248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv951e199
Supporting Variantsessv5635171, essv5839243, essv5941213, essv6437216, essv5510487, essv5434432, essv6413186, essv6058946, essv5728253, essv5921587, essv5544393, essv6384708, essv6472772, essv5624247, essv6347519, essv6596787, essv6078681, essv6195886, essv5868868, essv5468084, essv5819968, essv6300323, essv6453103, essv6304910, essv5624345, essv6580101, essv6519284, essv5507345, essv5536894, essv6146070, essv6384749, essv6598463, essv6301771, essv5532573, essv5883158, essv6480635, essv6241479, essv6063473, essv6113789, essv5417411, essv5494146, essv5824394, essv6197058, essv6238575, essv6487138, essv6157162, essv6578853, essv6194381, essv6414507
SamplesNA19397, NA19350, NA19355, NA19393, NA19377, NA19443, NA19446, NA19374, NA19319, NA19448, NA19313, NA19384, NA19404, NA19383, NA19372, NA19385, NA19471, NA19317, NA19456, NA19445, NA19451, NA19437, NA19403, NA19347, NA19391, NA19327, NA19455, NA19461, NA19453, NA19338, NA19452, NA19375, NA19390, NA19321, NA19434, NA19444, NA19331, NA19380, NA19428, NA19324, NA19311, NA19376, NA19328, NA19472, NA19468, NA19312, NA19463, NA19429, NA19431
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657391
Frequency
Sample Size1151
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer