A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613045



Internal ID6999943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:46496346..46514971hg38UCSC Ensembl
chr7:46535944..46554569hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3818626
hg1918626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12758676, essv12758677
SamplesHG00351, HG02588
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613045
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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