A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614462



Internal ID6654668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107566581..107659648hg38UCSC Ensembl
chr7:107207026..107300093hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg3893068
hg1993068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12917789
SamplesNA21116
Known GenesBCAP29, DUS4L, SLC26A4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614462
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