A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599191



Internal ID6986239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194171074..194174732hg38UCSC Ensembl
Innerchr3:194171074..194174732hg38UCSC Ensembl
Outerchr3:194170838..194175009hg38UCSC Ensembl
chr3:193888863..193892521hg19UCSC Ensembl
Innerchr3:193888863..193892521hg19UCSC Ensembl
Outerchr3:193888627..193892798hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383659
hg193659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11283705, essv11283700, essv11283704, essv11283699, essv11283703, essv11283701, essv11283702
SamplesHG03052, HG03193, NA19315, HG02111, NA19026, NA19210, HG02053
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599191
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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