A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594101



Internal ID6981421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207851642..207853301hg38UCSC Ensembl
Innerchr2:207851680..207853264hg38UCSC Ensembl
Outerchr2:207851605..207853339hg38UCSC Ensembl
chr2:208716366..208718025hg19UCSC Ensembl
Innerchr2:208716404..208717988hg19UCSC Ensembl
Outerchr2:208716329..208718063hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381660
hg191660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832804
SamplesNA20902
Known GenesPLEKHM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594101
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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