A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593550



Internal ID6980874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181846220..181983097hg38UCSC Ensembl
chr2:182710947..182847824hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38136878
hg19136878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10787258
SamplesHG01079
Known GenesPPP1R1C, SSFA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593550
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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