A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926483



Internal ID6551776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46730796..46989113hg38UCSC Ensembl
Innerchr1:46730946..46988963hg38UCSC Ensembl
Outerchr1:46730646..46989263hg38UCSC Ensembl
chr1:47196468..47454785hg19UCSC Ensembl
Innerchr1:47196618..47454635hg19UCSC Ensembl
Outerchr1:47196318..47454935hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38258318
hg19258318
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585938
Supporting Variants
SamplesHG03458
Known GenesCYP4A11, CYP4B1, CYP4Z2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926483
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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