A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588943



Internal ID6976359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222503457..222519245hg38UCSC Ensembl
chr1:222676799..222692587hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3815789
hg1915789
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10303611, essv10303610
SamplesNA19774, HG04015
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588943
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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