A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12722383



Internal ID1197980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:33090999..33146015hg38UCSC Ensembl
chr7:33130611..33185627hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3855017
hg1955017
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612757
Supporting Variants
SamplesHG01070
Known GenesBBS9, RP9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12722383
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