A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640710



Internal ID6680796
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15687998, essv15687997, essv15687995, essv15687996
SamplesNA18881, HG01945, NA20875, NA20299
Known GenesCBX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640710
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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