A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632019



Internal ID7018829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48199241..48206618hg38UCSC Ensembl
Innerchr13:48199452..48206407hg38UCSC Ensembl
Outerchr13:48199030..48206829hg38UCSC Ensembl
chr13:48773377..48780754hg19UCSC Ensembl
Innerchr13:48773588..48780543hg19UCSC Ensembl
Outerchr13:48773166..48780965hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg387378
hg197378
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14716028, essv14716052, essv14716038, essv14716040, essv14716024, essv14716030, essv14716015, essv14716054, essv14716016, essv14716025, essv14716043, essv14716031, essv14716026, essv14716020, essv14716022, essv14716021, essv14716049, essv14716019, essv14716053, essv14716036, essv14716042, essv14716048, essv14716032, essv14716041, essv14716039, essv14716014, essv14716033, essv14716050, essv14716046, essv14716047, essv14716035, essv14716017, essv14716029, essv14716023, essv14716045, essv14716018, essv14716034, essv14716037, essv14716027, essv14716044, essv14716051
SamplesHG01985, HG02944, HG03484, NA19399, HG02337, HG02891, HG03478, HG02325, NA19119, NA19138, NA20291, HG02922, HG02281, HG03520, NA20340, HG02502, NA19189, NA18864, HG03114, HG03369, HG02009, HG02449, HG02144, HG03472, NA19118, NA18912, HG03391, HG02772, HG02455, HG02667, HG03461, NA20276, HG03117, NA19328, HG02971, HG02679, NA18505, HG02284, HG02808, HG03129, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632019
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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