A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11030929



Internal ID4528727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:67156705..67207458hg38UCSC Ensembl
chr3:67207129..67257882hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg3850754
hg1950754
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596451
Supporting Variants
SamplesHG04023
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11030929
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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