A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10528475



Internal ID857785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65153774..65156789hg38UCSC Ensembl
Innerchr2:65153774..65156789hg38UCSC Ensembl
Outerchr2:65153274..65157289hg38UCSC Ensembl
chr2:65380908..65383923hg19UCSC Ensembl
Innerchr2:65380908..65383923hg19UCSC Ensembl
Outerchr2:65380408..65384423hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383016
hg193016
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591096
Supporting Variants
SamplesHG00448
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10528475
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