A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598992



Internal ID6639257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186668458..186717451hg38UCSC Ensembl
chr3:186386247..186435240hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3848994
hg1948994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv963e214
Supporting Variantsessv11259962, essv11259961
SamplesHG01305, NA12813
Known GenesHRG, KNG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598992
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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