A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15659288



Internal ID6086992
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640377
Supporting Variants
SamplesNA19468
Known GenesARGFXP2, RHOT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15659288
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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