A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590877



Internal ID6978205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:56143842..56171006hg38UCSC Ensembl
chr2:56370977..56398141hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3827165
hg1927165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10512634, essv10512637, essv10512635, essv10512636
SamplesNA18563, HG03995, HG02064, NA20886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590877
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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