A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12922643



Internal ID5432061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108954936..109000743hg38UCSC Ensembl
chr7:108594993..108640800hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3845808
hg1945808
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614486
Supporting Variants
SamplesNA18956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12922643
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