A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15687998



Internal ID5689814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48076094..48081980hg38UCSC Ensembl
chr17:46153456..46159342hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg385887
hg195887
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640710
Supporting Variants
SamplesNA20875
Known GenesCBX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15687998
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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