A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599236



Internal ID6986284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195463761..195477000hg38UCSC Ensembl
Innerchr3:195464260..195477000hg38UCSC Ensembl
Outerchr3:195462761..195478363hg38UCSC Ensembl
chr3:195184478..195198790hg19UCSC Ensembl
Innerchr3:195184978..195198290hg19UCSC Ensembl
Outerchr3:195183478..195199790hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3813240
hg1914313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11287982
SamplesHG01680
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599236
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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