A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9842001



Internal ID6467294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3817921..3928224hg38UCSC Ensembl
chr1:3734485..3844788hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38110304
hg19110304
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585052
Supporting Variants
SamplesHG02481
Known GenesC1orf174, CEP104, DFFB, LINC01134
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9842001
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