A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629399



Internal ID6669539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237373..46238288hg38UCSC Ensembl
Innerchr12:46237374..46238288hg38UCSC Ensembl
Outerchr12:46237373..46238289hg38UCSC Ensembl
chr12:46631156..46632071hg19UCSC Ensembl
Innerchr12:46631157..46632071hg19UCSC Ensembl
Outerchr12:46631156..46632072hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474069, essv14474036, essv14474063, essv14474073, essv14474066, essv14474075, essv14474034, essv14474092, essv14474085, essv14474041, essv14474055, essv14474040, essv14474093, essv14474050, essv14474071, essv14474072, essv14474049, essv14474053, essv14474065, essv14474019, essv14474089, essv14474032, essv14474057, essv14474035, essv14474029, essv14474044, essv14474080, essv14474060, essv14474088, essv14474052, essv14474030, essv14474046, essv14474051, essv14474074, essv14474022, essv14474042, essv14474056, essv14474095, essv14474020, essv14474064, essv14474043, essv14474090, essv14474079, essv14474096, essv14474026, essv14474028, essv14474045, essv14474061, essv14474059, essv14474067, essv14474081, essv14474048, essv14474037, essv14474078, essv14474021, essv14474038, essv14474076, essv14474082, essv14474024, essv14474094, essv14474062, essv14474070, essv14474087, essv14474027, essv14474023, essv14474083, essv14474025, essv14474077, essv14474068, essv14474047, essv14474084, essv14474058, essv14474054, essv14474091, essv14474039, essv14474031, essv14474033, essv14474086
SamplesHG01986, NA18502, HG03559, NA19378, HG01188, HG02852, NA19092, HG03280, HG02476, NA20294, HG03295, HG03515, HG02888, HG02589, HG01924, HG02620, HG00736, HG02645, HG02111, NA19372, NA19024, HG01369, NA19471, HG02571, NA19239, HG02545, NA20127, HG02477, NA19027, HG03169, HG02819, HG02716, HG02943, HG02442, HG02570, HG03054, HG02511, HG02554, NA18516, HG03085, NA19042, HG03388, HG02666, HG02585, HG02635, HG02586, HG03109, HG01990, NA19436, HG03567, NA19017, NA19309, HG02282, HG02807, NA19149, HG03367, HG01551, NA19037, NA19331, NA20351, HG02314, NA18865, HG03433, NA19439, HG03419, HG03108, HG02095, HG03157, NA19351, HG02938, HG03063, HG03351, NA19096, HG03538, HG03445, HG03376, NA19463, HG01886
Known GenesSLC38A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629399
Frequency
Sample Size2504
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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