A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11050710



Internal ID2056136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:79154536..79168348hg38UCSC Ensembl
Innerchr3:79154548..79168337hg38UCSC Ensembl
Outerchr3:79154525..79168360hg38UCSC Ensembl
chr3:79203686..79217498hg19UCSC Ensembl
Innerchr3:79203698..79217487hg19UCSC Ensembl
Outerchr3:79203675..79217510hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3813813
hg1913813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596698
Supporting Variants
SamplesHG01874
Known GenesROBO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11050710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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