A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10931425



Internal ID4488501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:13581066..13627421hg38UCSC Ensembl
chr3:13622566..13668921hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3846356
hg1946356
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595351
Supporting Variants
SamplesHG03989
Known GenesFBLN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10931425
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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