A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593622



Internal ID6980945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:184499500..184538434hg38UCSC Ensembl
chr2:185364227..185403161hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3838935
hg1938935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv754e214
Supporting Variantsessv10789746, essv10789747
SamplesNA19391, NA19043
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593622
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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