A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647765



Internal ID7034504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39468616..39469198hg38UCSC Ensembl
Innerchr22:39468617..39469197hg38UCSC Ensembl
Outerchr22:39468615..39469199hg38UCSC Ensembl
chr22:39864621..39865203hg19UCSC Ensembl
Innerchr22:39864622..39865202hg19UCSC Ensembl
Outerchr22:39864620..39865204hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427845, essv16427824, essv16427805, essv16427815, essv16427826, essv16427807, essv16427812, essv16427838, essv16427813, essv16427820, essv16427848, essv16427827, essv16427828, essv16427834, essv16427821, essv16427823, essv16427825, essv16427819, essv16427803, essv16427839, essv16427836, essv16427817, essv16427808, essv16427830, essv16427854, essv16427840, essv16427829, essv16427818, essv16427806, essv16427816, essv16427822, essv16427831, essv16427846, essv16427853, essv16427809, essv16427811, essv16427844, essv16427847, essv16427850, essv16427855, essv16427843, essv16427837, essv16427833, essv16427852, essv16427832, essv16427810, essv16427814, essv16427835, essv16427841, essv16427856, essv16427842, essv16427849, essv16427851, essv16427804
SamplesHG03514, HG01060, HG01438, NA19399, NA19332, HG03111, NA20512, HG00640, NA19355, HG01924, HG03578, NA19457, HG02143, HG02067, HG03212, NA19238, HG01405, NA19239, NA19209, NA19456, HG03583, NA19200, HG02716, NA19247, NA18933, HG01271, NA19184, HG03159, HG00551, HG03294, NA19118, HG03202, HG01613, NA06989, NA18853, HG03046, NA06985, HG01680, HG01700, NA19309, HG00353, HG01958, NA20520, HG02941, HG03473, HG03108, HG03103, NA19438, HG02768, HG01105, HG01883, HG03445, NA19429, NA19346
Known GenesMGAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647765
Frequency
Sample Size2504
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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