A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659448



Internal ID9578867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32294713..32297476hg38UCSC Ensembl
chr8:32152229..32154992hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg382764
hg192764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5552299, essv6362741, essv5610496, essv6437082, essv5425868, essv6314200, essv5443883, essv6559363, essv5584101, essv5630122, essv6505921, essv6533166, essv5794104, essv5701786, essv5769996, essv6236499, essv5883141, essv6241486, essv6145612, essv6232211, essv6025911, essv6111610, essv6505138
SamplesNA18605, NA18975, NA19072, NA18949, NA18559, NA19054, NA18617, NA18609, NA18593, NA18620, NA18986, NA19002, NA18558, NA18942, HG00513, NA18597, HG00443, NA18538, NA18614, NA19064, HG00693, NA19079, NA19065
Known GenesNRG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659448
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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