A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613237



Internal ID7000135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:55286216..55390887hg38UCSC Ensembl
chr7:55353909..55458580hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38104672
hg19104672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12783466
SamplesNA12828
Known GenesLANCL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613237
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