A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640757



Internal ID7027531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50903053..50923436hg38UCSC Ensembl
chr17:48980414..49000797hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3820384
hg1920384
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15695223, essv15695224
SamplesNA19762, NA19712
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640757
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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