A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588869



Internal ID6629160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218304717..218336113hg38UCSC Ensembl
chr1:218478059..218509455hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3831397
hg1931397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10296913
SamplesHG04080
Known GenesRRP15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588869
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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