A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623245



Internal ID6663413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52308882..52309368hg38UCSC Ensembl
Innerchr10:52308904..52309347hg38UCSC Ensembl
Outerchr10:52308861..52309390hg38UCSC Ensembl
chr10:54068642..54069128hg19UCSC Ensembl
Innerchr10:54068664..54069107hg19UCSC Ensembl
Outerchr10:54068621..54069150hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13807104, essv13807077, essv13807063, essv13807107, essv13807074, essv13807055, essv13807058, essv13807108, essv13807097, essv13807100, essv13807072, essv13807052, essv13807094, essv13807095, essv13807050, essv13807070, essv13807062, essv13807059, essv13807105, essv13807091, essv13807109, essv13807068, essv13807078, essv13807067, essv13807081, essv13807065, essv13807069, essv13807106, essv13807061, essv13807064, essv13807057, essv13807053, essv13807056, essv13807085, essv13807101, essv13807092, essv13807088, essv13807102, essv13807111, essv13807096, essv13807098, essv13807099, essv13807049, essv13807079, essv13807103, essv13807082, essv13807051, essv13807048, essv13807084, essv13807087, essv13807086, essv13807089, essv13807047, essv13807054, essv13807066, essv13807080, essv13807075, essv13807076, essv13807060, essv13807083, essv13807110, essv13807093, essv13807090, essv13807071, essv13807073
SamplesNA20281, HG02854, HG01440, HG03279, HG02621, NA19437, HG03563, HG02799, HG03304, HG01885, HG02896, NA18511, HG02419, HG03313, HG03046, HG02946, HG03571, HG02884, NA19378, HG03538, NA19257, HG03380, HG03199, NA20412, NA19028, NA18508, NA19323, HG03300, HG02009, NA20801, HG02557, HG02643, NA19351, HG01396, HG03539, NA19835, HG01242, HG03126, NA20291, NA19374, NA20348, HG03473, HG03511, HG03168, HG02971, NA18858, NA19347, HG02511, HG02771, HG02536, NA19462, HG02570, HG03385, HG03556, NA20298, HG02589, NA19041, HG02678, NA19118, HG02721, HG02485, HG02051, HG02013, NA19448, HG02095
Known GenesPRKG1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623245
Frequency
Sample Size2504
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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