A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9926528



Internal ID6551821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47041399..47059569hg38UCSC Ensembl
chr1:47507071..47525241hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3818171
hg1918171
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585950
Supporting Variants
SamplesHG01948
Known GenesCYP4X1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9926528
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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