A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307369



Internal ID15154317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149660770..149660771hg38UCSC Ensembl
Innerchr3:149660702..149660839hg38UCSC Ensembl
Outerchr3:149660701..149660840hg38UCSC Ensembl
chr3:149378557..149378558hg19UCSC Ensembl
Innerchr3:149378489..149378626hg19UCSC Ensembl
Outerchr3:149378488..149378627hg19UCSC Ensembl
chr3:150861247..150861248hg18UCSC Ensembl
Innerchr3:150861316..150861179hg18UCSC Ensembl
Outerchr3:150861178..150861317hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381289
hg191289
hg181289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7750927, essv7762536
SamplesNA18980, NA18948
Known GenesWWTR1, WWTR1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307369
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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