A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612252



Internal ID6999153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12413845..12454620hg38UCSC Ensembl
chr7:12453471..12494246hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3840776
hg1940776
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12683729
SamplesHG02040
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612252
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