A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598974



Internal ID6986022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185778387..185783993hg38UCSC Ensembl
chr3:185496175..185501781hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg385607
hg195607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11257894
SamplesHG01682
Known GenesIGF2BP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598974
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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