A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599021



Internal ID6986069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188115132..188131960hg38UCSC Ensembl
Innerchr3:188115132..188131960hg38UCSC Ensembl
Outerchr3:188114953..188132137hg38UCSC Ensembl
chr3:187832920..187849748hg19UCSC Ensembl
Innerchr3:187832920..187849748hg19UCSC Ensembl
Outerchr3:187832741..187849925hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3816829
hg1916829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11261976
SamplesHG00463
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599021
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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