A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610747



Internal ID6650973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:128748629..129044990hg38UCSC Ensembl
chr6:129069774..129366135hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38296362
hg19296362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12542205, essv12542204
SamplesHG02250, HG01796
Known GenesLAMA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610747
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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