A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336498



Internal ID15183486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52696933..52696933hg38UCSC Ensembl
Innerchr3:52696932..52696934hg38UCSC Ensembl
Outerchr3:52696893..52696953hg38UCSC Ensembl
chr3:52730949..52730949hg19UCSC Ensembl
Innerchr3:52730948..52730950hg19UCSC Ensembl
Outerchr3:52730909..52730969hg19UCSC Ensembl
chr3:52705989..52705989hg18UCSC Ensembl
Innerchr3:52705990..52705988hg18UCSC Ensembl
Outerchr3:52705949..52706009hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8645405
Samples
Known GenesGLT8D1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336498
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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