A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269136



Internal ID6049522
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599075
Supporting Variants
SamplesNA19446
Known GenesCLDN16, TMEM207
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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