A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640377



Internal ID6680464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32099879..32211610hg38UCSC Ensembl
chr17:30426898..30538629hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38111732
hg19111732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15659288, essv15659287, essv15659286
SamplesNA19466, HG03199, NA19468
Known GenesARGFXP2, RHOT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640377
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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