A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15659290



Internal ID2242686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32158325..32164981hg38UCSC Ensembl
chr17:30485344..30492000hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386657
hg196657
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640379
Supporting Variants
SamplesHG02012
Known GenesRHOT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15659290
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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