A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10720003



Internal ID4595997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154843982..154847849hg38UCSC Ensembl
chr2:155700494..155704361hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383868
hg193868
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593001
Supporting Variants
SamplesHG04107
Known GenesKCNJ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10720003
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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