A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634933



Internal ID7021733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74078631..74079352hg38UCSC Ensembl
Innerchr14:74078640..74079343hg38UCSC Ensembl
Outerchr14:74078622..74079361hg38UCSC Ensembl
chr14:74545334..74546055hg19UCSC Ensembl
Innerchr14:74545343..74546046hg19UCSC Ensembl
Outerchr14:74545325..74546064hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15061038, essv15061034, essv15061057, essv15061030, essv15061043, essv15061062, essv15061070, essv15061021, essv15061063, essv15061036, essv15061058, essv15061042, essv15061025, essv15061027, essv15061064, essv15061047, essv15061045, essv15061053, essv15061060, essv15061041, essv15061067, essv15061018, essv15061019, essv15061059, essv15061074, essv15061055, essv15061020, essv15061075, essv15061037, essv15061029, essv15061024, essv15061056, essv15061069, essv15061068, essv15061028, essv15061048, essv15061026, essv15061061, essv15061039, essv15061071, essv15061051, essv15061031, essv15061032, essv15061066, essv15061022, essv15061065, essv15061072, essv15061046, essv15061054, essv15061044, essv15061023, essv15061052, essv15061073, essv15061033, essv15061049, essv15061035, essv15061050, essv15061040
SamplesNA19394, HG00231, NA19397, NA18508, HG02702, HG03057, HG01326, HG03115, HG02891, NA19795, HG02804, HG03455, HG03100, HG03126, HG03518, HG02312, NA19198, HG02854, HG03479, HG02111, HG03079, NA19922, HG02561, NA19372, NA19235, HG01950, HG02571, NA20412, NA18867, HG02716, HG02009, HG02334, NA19462, HG01879, NA19043, HG02144, HG03428, NA18871, HG03159, HG03476, NA18499, HG03397, NA19452, NA19625, HG03437, NA19144, HG02317, NA19248, HG02676, NA19096, NA19711, NA19213, HG03376, HG02465, HG02851, HG02808, HG01509, HG03439
Known GenesALDH6A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634933
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer