A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611282



Internal ID6998191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152490251..152517981hg38UCSC Ensembl
chr6:152811386..152839116hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3827731
hg1927731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12586175
SamplesHG01783
Known GenesSYNE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611282
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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