A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623918



Internal ID7010774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79545123..79631308hg38UCSC Ensembl
chr10:81304879..81391064hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3886186
hg1986186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv152e214
Supporting Variantsessv13868309, essv13868308
SamplesHG01133, NA20126
Known GenesSFTPA1, SFTPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623918
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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