A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586867



Internal ID6972038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96487043..96489999hg38UCSC Ensembl
Innerchr1:96487043..96489999hg38UCSC Ensembl
Outerchr1:96486902..96490071hg38UCSC Ensembl
chr1:96952599..96955555hg19UCSC Ensembl
Innerchr1:96952599..96955555hg19UCSC Ensembl
Outerchr1:96952458..96955627hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg382957
hg192957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10025273, essv10025275, essv10025274
SamplesNA18870, HG03258, HG03166
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586867
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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