A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8917049



Internal ID13066674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191281661..191281673hg38UCSC Ensembl
Innerchr3:191281652..191281682hg38UCSC Ensembl
Outerchr3:191281640..191281694hg38UCSC Ensembl
chr3:190999450..190999462hg19UCSC Ensembl
Innerchr3:190999441..190999471hg19UCSC Ensembl
Outerchr3:190999429..190999483hg19UCSC Ensembl
chr3:192482144..192482156hg18UCSC Ensembl
Innerchr3:192482165..192482135hg18UCSC Ensembl
Outerchr3:192482123..192482177hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3404133
Supporting Variants
SamplesNA07346
Known GenesUTS2B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8917049
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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