A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10818284



Internal ID820100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199314309..199318891hg38UCSC Ensembl
chr2:200179032..200183614hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg384583
hg194583
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593942
Supporting Variants
SamplesHG01405
Known GenesSATB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10818284
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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