A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11577053



Internal ID513002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:115854034..116057028hg38UCSC Ensembl
chr4:116775190..116978184hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38202995
hg19202995
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601870
Supporting Variants
SamplesHG00183
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11577053
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