A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915965



Internal ID14544527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149660766..149660829hg38UCSC Ensembl
Innerchr3:149660788..149660807hg38UCSC Ensembl
Outerchr3:149660725..149660870hg38UCSC Ensembl
chr3:149378553..149378616hg19UCSC Ensembl
Innerchr3:149378575..149378594hg19UCSC Ensembl
Outerchr3:149378512..149378657hg19UCSC Ensembl
chr3:150861243..150861306hg18UCSC Ensembl
Innerchr3:150861284..150861265hg18UCSC Ensembl
Outerchr3:150861202..150861347hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381289
hg191289
hg181289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417310
Supporting Variants
SamplesNA18948
Known GenesWWTR1, WWTR1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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