A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894785



Internal ID6520078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28507394..28508667hg38UCSC Ensembl
Innerchr1:28507409..28508652hg38UCSC Ensembl
Outerchr1:28507379..28508682hg38UCSC Ensembl
chr1:28833906..28835179hg19UCSC Ensembl
Innerchr1:28833921..28835164hg19UCSC Ensembl
Outerchr1:28833891..28835194hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585585
Supporting Variants
SamplesNA20792
Known GenesRCC1, SNHG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894785
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