A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8741087



Internal ID15086852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:159914821..159914821hg38UCSC Ensembl
Innerchr3:159914820..159914822hg38UCSC Ensembl
Outerchr3:159914771..159914871hg38UCSC Ensembl
chr3:159632610..159632610hg19UCSC Ensembl
Innerchr3:159632609..159632611hg19UCSC Ensembl
Outerchr3:159632560..159632660hg19UCSC Ensembl
chr3:161115304..161115304hg18UCSC Ensembl
Innerchr3:161115305..161115303hg18UCSC Ensembl
Outerchr3:161115254..161115354hg18UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381220
hg191220
hg181220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327982
Supporting Variants
SamplesNA19240
Known GenesIL12A-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8741087
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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