A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13018508



Internal ID3020324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:152820301..152885417hg38UCSC Ensembl
chr7:152517386..152582502hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3865117
hg1965117
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615531
Supporting Variants
SamplesHG03652
Known GenesACTR3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13018508
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