A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591959



Internal ID6632243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110139413..110160345hg38UCSC Ensembl
chr2:110896990..110917922hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3820933
hg1920933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv729e214
Supporting Variantsessv10615307, essv10615306
SamplesHG04222, HG01879
Known GenesNPHP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591959
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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