A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652236



Internal ID14755801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38084209..38084703hg38UCSC Ensembl
Innerchr3:38084209..38084703hg38UCSC Ensembl
Outerchr3:38084177..38085126hg38UCSC Ensembl
chr3:38125700..38126194hg19UCSC Ensembl
Innerchr3:38125700..38126194hg19UCSC Ensembl
Outerchr3:38125668..38126617hg19UCSC Ensembl
chr3:38100704..38101198hg18UCSC Ensembl
Innerchr3:38100704..38101198hg18UCSC Ensembl
Outerchr3:38100672..38101621hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38495
hg19495
hg18495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3383943
Supporting Variants
SamplesNA19240
Known GenesDLEC1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652236
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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