A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11092001



Internal ID4509156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:104215825..104343881hg38UCSC Ensembl
chr3:103934669..104062725hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38128057
hg19128057
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597245
Supporting Variants
SamplesHG04006
Known GenesMIR548A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11092001
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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