A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593466



Internal ID6633746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177618127..177839958hg38UCSC Ensembl
chr2:178482855..178704685hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38221832
hg19221831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10774973
SamplesHG00543
Known GenesPDE11A, TTC30A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593466
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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