A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590675



Internal ID6978004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49064501..49066230hg38UCSC Ensembl
Innerchr2:49064531..49066201hg38UCSC Ensembl
Outerchr2:49064472..49066260hg38UCSC Ensembl
chr2:49291640..49293369hg19UCSC Ensembl
Innerchr2:49291670..49293340hg19UCSC Ensembl
Outerchr2:49291611..49293399hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381730
hg191730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10496211
SamplesHG02882
Known GenesFSHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590675
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