A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11490136



Internal ID4104614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69423317..69517912hg38UCSC Ensembl
chr4:70289035..70383630hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3894596
hg1994596
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600908
Supporting Variants
SamplesHG03729
Known GenesUGT2B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11490136
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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