A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10609623



Internal ID2215356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107663858..107825780hg38UCSC Ensembl
chr2:108280314..108442236hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38161923
hg19161923
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591908
Supporting Variants
SamplesHG01990
Known GenesRGPD4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10609623
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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