A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10211053



Internal ID6332379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184639908..184645766hg38UCSC Ensembl
Innerchr1:184639908..184645766hg38UCSC Ensembl
Outerchr1:184639408..184646266hg38UCSC Ensembl
chr1:184609042..184614900hg19UCSC Ensembl
Innerchr1:184609042..184614900hg19UCSC Ensembl
Outerchr1:184608542..184615400hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385859
hg195859
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588128
Supporting Variants
SamplesNA19923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10211053
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