A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3614966



Internal ID7001855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128288283..128308105hg38UCSC Ensembl
chr7:127928336..127948158hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3819823
hg1919823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12962994, essv12962988, essv12962985, essv12962989, essv12962991, essv12962984, essv12962990, essv12962987, essv12962986, essv12962992, essv12962993
SamplesNA20529, HG01686, HG01947, HG01766, NA11918, NA12282, HG01707, NA20538, HG01130, HG01705, NA21123
Known GenesMGC27345
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3614966
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer