A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11268567



Internal ID1270383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190121907..190123307hg38UCSC Ensembl
Innerchr3:190121935..190123279hg38UCSC Ensembl
Outerchr3:190121879..190123335hg38UCSC Ensembl
chr3:189839696..189841096hg19UCSC Ensembl
Innerchr3:189839724..189841068hg19UCSC Ensembl
Outerchr3:189839668..189841124hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599065
Supporting Variants
SamplesHG01935
Known GenesLEPREL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11268567
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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