A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253154



Internal ID1254970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183880700..183889952hg38UCSC Ensembl
chr3:183598488..183607740hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg389253
hg199253
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598933
Supporting Variants
SamplesHG02307
Known GenesPARL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253154
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer