A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588378



Internal ID6975794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193904702..193948150hg38UCSC Ensembl
chr1:193873832..193917280hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3843449
hg1943449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70e214
Supporting Variantsessv10240220, essv10240219
SamplesNA20901, HG04118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588378
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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