A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638949



Internal ID7025734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70147946..70162829hg38UCSC Ensembl
chr16:70181849..70196732hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3814884
hg1914884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv527e214
Supporting Variantsessv15505859, essv15505856, essv15505852, essv15505851, essv15505861, essv15505853, essv15505860, essv15505850, essv15505858, essv15505849, essv15505854, essv15505855, essv15505862, essv15505857
SamplesHG04210, NA18641, NA18625, HG00330, NA18547, HG00268, NA18879, HG01791, HG01988, HG02675, NA18564, NA19102, HG01863, HG00437
Known GenesPDPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638949
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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