A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639638



Internal ID6679729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:749023..771770hg38UCSC Ensembl
chr17:652263..675010hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3822748
hg1922748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15572752, essv15572753
SamplesNA20317, NA20318
Known GenesDBIL5P, GEMIN4, GLOD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639638
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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