A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613085



Internal ID6999983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48515667..48542876hg38UCSC Ensembl
chr7:48555263..48582472hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3827210
hg1927210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12764120
SamplesHG01893
Known GenesABCA13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613085
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