A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610243



Internal ID6997160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104416510..104488616hg38UCSC Ensembl
chr6:104864385..104936491hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3872107
hg1972107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12495648, essv12495650, essv12495649, essv12495646, essv12495651, essv12495645, essv12495647
SamplesNA20798, HG01524, NA20787, HG01536, HG03755, HG02799, HG03920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610243
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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