A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11268554



Internal ID1270370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190120192..190123347hg38UCSC Ensembl
Innerchr3:190120192..190123347hg38UCSC Ensembl
Outerchr3:190119692..190123847hg38UCSC Ensembl
chr3:189837981..189841136hg19UCSC Ensembl
Innerchr3:189837981..189841136hg19UCSC Ensembl
Outerchr3:189837481..189841636hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383156
hg193156
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599064
Supporting Variants
SamplesHG03297
Known GenesLEPREL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11268554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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