A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11143189



Internal ID1145005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128986215..129087514hg38UCSC Ensembl
Innerchr3:128986365..129087364hg38UCSC Ensembl
Outerchr3:128986065..129087664hg38UCSC Ensembl
chr3:128705058..128806357hg19UCSC Ensembl
Innerchr3:128705208..128806207hg19UCSC Ensembl
Outerchr3:128704908..128806507hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38101300
hg19101300
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597730
Supporting Variants
SamplesHG04211
Known GenesEFCC1, GP9, KIAA1257
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11143189
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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