A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056171



Internal ID6057987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41682404..41687675hg38UCSC Ensembl
chr19:42186335..42191604hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385272
hg195270
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644391
Supporting Variants
SamplesNA19113
Known GenesCEACAM7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056171
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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