A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588647



Internal ID6976063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206135385..206141401hg38UCSC Ensembl
chr1:206199929..206205945hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10273976, essv10273977
SamplesHG02390, HG01625
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588647
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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