A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663658



Internal ID9929763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47906391..47907368hg38UCSC Ensembl
chr8:48818951..48819928hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5732859, essv6211309, essv5410180, essv5596154, essv6491745, essv6077405, essv6071018, essv6260995, essv6126059, essv5522326, essv6463679, essv6511701, essv6527108, essv5712800, essv6053854, essv5902402, essv6279546, essv6054134, essv6558401, essv6187504, essv6334041, essv6509544, essv6375850, essv5847164, essv5596953
SamplesHG01441, HG01098, HG01356, NA19664, HG01051, NA19660, NA19762, NA19782, HG01110, HG01080, NA19722, HG00637, HG01136, NA19657, HG01171, HG01073, NA19774, HG01197, NA19682, HG01107, HG01357, NA19786, NA19779, HG01055, HG00186
Known GenesPRKDC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663658
Frequency
Sample Size1151
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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