A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638041



Internal ID6678139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15702756..16002857hg38UCSC Ensembl
chr16:15796613..16096714hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38300102
hg19300102
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15385646, essv15385648, essv15385647
SamplesHG00334, HG03072, HG03890
Known GenesABCC1, FOPNL, MYH11, NDE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638041
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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