A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641680



Internal ID7028452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7078558..7202093hg38UCSC Ensembl
chr18:7078557..7202091hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38123536
hg19123535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15793279
SamplesHG01841
Known GenesLAMA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641680
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