A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638047



Internal ID6678145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15945943..15950027hg38UCSC Ensembl
chr16:16039800..16043884hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg384085
hg194085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15385782, essv15385785, essv15385786, essv15385781, essv15385783, essv15385787, essv15385784
SamplesNA18508, NA21127, NA20822, HG04062, HG03072, HG03890, NA18881
Known GenesABCC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638047
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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