A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673602



Internal ID9593021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104884179..104884985hg38UCSC Ensembl
Outerchr14:104883808..104885355hg38UCSC Ensembl
Innerchr14:105350516..105351322hg19UCSC Ensembl
Outerchr14:105350145..105351692hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6598428, essv5993601, essv6244932, essv5472388, essv6380726, essv5982893, essv6117135, essv6213161, essv5620076, essv6356126, essv6554760, essv6488605, essv6118213, essv6277647, essv5433537, essv5857243, essv6512725, essv5962861, essv5582834, essv6165958, essv6173517, essv6052592, essv5562556, essv5916059, essv5406498, essv6208926, essv5982914
SamplesNA19625, NA19712, NA19904, NA20278, NA20299, NA20294, NA19834, NA19701, NA20322, NA20340, NA19914, NA19982, NA19917, NA19835, NA20282, NA19700, NA19703, NA20344, NA19713, NA19901, NA19704, NA19707, NA19711, NA19921, NA20289, NA19818, NA19916
Known GenesCEP170B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673602
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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