A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443267



Internal ID15290220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142413368..142413387hg38UCSC Ensembl
Innerchr3:142413364..142413391hg38UCSC Ensembl
Outerchr3:142413345..142413410hg38UCSC Ensembl
chr3:142132210..142132229hg19UCSC Ensembl
Innerchr3:142132206..142132233hg19UCSC Ensembl
Outerchr3:142132187..142132252hg19UCSC Ensembl
chr3:143614900..143614919hg18UCSC Ensembl
Innerchr3:143614923..143614896hg18UCSC Ensembl
Outerchr3:143614877..143614942hg18UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678695
SamplesNA19240
Known GenesXRN1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443267
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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