A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11237578



Internal ID1239394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177296193..177874981hg38UCSC Ensembl
Innerchr3:177296343..177874831hg38UCSC Ensembl
Outerchr3:177296043..177875131hg38UCSC Ensembl
chr3:177013981..177592769hg19UCSC Ensembl
Innerchr3:177014131..177592619hg19UCSC Ensembl
Outerchr3:177013831..177592919hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38578789
hg19578789
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598792
Supporting Variants
SamplesHG03061
Known GenesLINC00501, LINC00578
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11237578
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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