A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11260040



Internal ID1261856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186850048..186859940hg38UCSC Ensembl
chr3:186567837..186577729hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg389893
hg199893
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598999
Supporting Variants
SamplesHG02048
Known GenesADIPOQ, ADIPOQ-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11260040
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