A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10146166



Internal ID1628548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152482215..152500340hg38UCSC Ensembl
chr1:152454691..152472816hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3818126
hg1918126
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587556
Supporting Variants
SamplesHG01504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10146166
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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