A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11379169



Internal ID490955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:28794501..28838647hg38UCSC Ensembl
chr4:28796123..28840269hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3844147
hg1944147
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600025
Supporting Variants
SamplesHG00173
Known GenesMIR4275
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11379169
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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