A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253157



Internal ID1254973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183917095..183991194hg38UCSC Ensembl
Innerchr3:183917245..183991044hg38UCSC Ensembl
Outerchr3:183916945..183991344hg38UCSC Ensembl
chr3:183634883..183708982hg19UCSC Ensembl
Innerchr3:183635033..183708832hg19UCSC Ensembl
Outerchr3:183634733..183709132hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3874100
hg1974100
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598934
Supporting Variants
SamplesHG03061
Known GenesABCC5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253157
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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