A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613217



Internal ID7000115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:54359448..54442580hg38UCSC Ensembl
chr7:54427141..54510273hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3883133
hg1983133
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12779364
SamplesHG02271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613217
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