A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10029613



Internal ID6575757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:99759941..99766630hg38UCSC Ensembl
Innerchr1:99759955..99766616hg38UCSC Ensembl
Outerchr1:99759927..99766644hg38UCSC Ensembl
chr1:100225497..100232186hg19UCSC Ensembl
Innerchr1:100225511..100232172hg19UCSC Ensembl
Outerchr1:100225483..100232200hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg386690
hg196690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586928
Supporting Variants
SamplesNA20762
Known GenesFRRS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10029613
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