A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598993



Internal ID6639258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186668715..186706848hg38UCSC Ensembl
Innerchr3:186668718..186706845hg38UCSC Ensembl
Outerchr3:186668712..186706851hg38UCSC Ensembl
chr3:186386504..186424637hg19UCSC Ensembl
Innerchr3:186386507..186424634hg19UCSC Ensembl
Outerchr3:186386501..186424640hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3838134
hg1938134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv963e214
Supporting Variantsessv11259965, essv11259963, essv11259964
SamplesHG00100, HG01305, NA12813
Known GenesHRG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598993
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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