A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639423



Internal ID6679516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84396296..84398175hg38UCSC Ensembl
Innerchr16:84396296..84398175hg38UCSC Ensembl
Outerchr16:84396004..84398562hg38UCSC Ensembl
chr16:84429902..84431781hg19UCSC Ensembl
Innerchr16:84429902..84431781hg19UCSC Ensembl
Outerchr16:84429610..84432168hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381880
hg191880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545856, essv15545850, essv15545842, essv15545849, essv15545869, essv15545840, essv15545852, essv15545866, essv15545838, essv15545846, essv15545837, essv15545841, essv15545862, essv15545848, essv15545864, essv15545855, essv15545843, essv15545839, essv15545865, essv15545858, essv15545870, essv15545845, essv15545844, essv15545847, essv15545860, essv15545861, essv15545868, essv15545857, essv15545854, essv15545859, essv15545863, essv15545867, essv15545853, essv15545851
SamplesHG03370, NA19312, NA19445, HG02621, HG01052, NA19437, HG02284, HG02983, HG01885, HG03295, HG03133, HG03548, NA19467, NA19438, NA20340, HG02420, HG02009, HG02772, NA19036, NA19377, NA19380, NA19129, NA19172, HG03195, NA19374, NA19318, NA20355, HG02339, HG03303, NA20287, NA18917, HG01985, HG02555, NA20339
Known GenesATP2C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639423
Frequency
Sample Size2504
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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