A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10169318



Internal ID838906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162104470..162394594hg38UCSC Ensembl
Innerchr1:162104620..162394444hg38UCSC Ensembl
Outerchr1:162104320..162394744hg38UCSC Ensembl
chr1:162074260..162364384hg19UCSC Ensembl
Innerchr1:162074410..162364234hg19UCSC Ensembl
Outerchr1:162074110..162364534hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38290125
hg19290125
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587740
Supporting Variants
SamplesHG00428
Known GenesC1orf111, C1orf226, MIR4654, MIR556, NOS1AP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10169318
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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