A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310022



Internal ID15156973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142413377..142413378hg38UCSC Ensembl
Innerchr3:142413355..142413400hg38UCSC Ensembl
Outerchr3:142413354..142413401hg38UCSC Ensembl
chr3:142132219..142132220hg19UCSC Ensembl
Innerchr3:142132197..142132242hg19UCSC Ensembl
Outerchr3:142132196..142132243hg19UCSC Ensembl
chr3:143614909..143614910hg18UCSC Ensembl
Innerchr3:143614932..143614887hg18UCSC Ensembl
Outerchr3:143614886..143614933hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839225
SamplesNA19240
Known GenesXRN1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310022
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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