A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6049824



Internal ID9027227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190121973..190123370hg38UCSC Ensembl
chr3:189839762..189841159hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664192
Supporting Variants
SamplesNA19107
Known GenesLEPREL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6049824
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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