A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599075



Internal ID6986123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190396375..190433677hg38UCSC Ensembl
Innerchr3:190396375..190433677hg38UCSC Ensembl
Outerchr3:190396132..190433876hg38UCSC Ensembl
chr3:190114164..190151466hg19UCSC Ensembl
Innerchr3:190114164..190151466hg19UCSC Ensembl
Outerchr3:190113921..190151665hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3837303
hg1937303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11269136
SamplesNA19446
Known GenesCLDN16, TMEM207
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599075
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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