A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926484



Internal ID6551777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46798765..46837514hg38UCSC Ensembl
chr1:47264437..47303186hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3838750
hg1938750
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585939
Supporting Variants
SamplesHG04100
Known GenesCYP4B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926484
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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