A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669039



Internal ID9588458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52308976..52309423hg38UCSC Ensembl
chr10:54068736..54069183hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38448
hg19448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5669249, essv6556865, essv5665141, essv5466654, essv5971977, essv6196723, essv5578972, essv5400248, essv6335206, essv5496342, essv6144161, essv6388145, essv6423916, essv6374764, essv5869414, essv6201333, essv5501526, essv5725642, essv5837260, essv5899424
SamplesNA11995, NA18508, NA18526, NA19374, NA19373, NA19448, NA18571, NA20291, HG01440, NA19462, NA18912, NA19257, NA19469, NA18858, NA18542, NA18909, NA19835, NA20281, NA12006, NA18511
Known GenesPRKG1-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669039
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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