A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640724



Internal ID7027498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48803896..48806953hg38UCSC Ensembl
chr17:46881258..46884315hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg383058
hg193058
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15692525, essv15692524, essv15692528, essv15692532, essv15692526, essv15692527, essv15692529, essv15692531, essv15692530
SamplesNA19378, NA21100, NA20814, NA19056, HG03457, NA20276, HG01551, NA20289, HG00593
Known GenesTTLL6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640724
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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