A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335696



Internal ID15182686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44106391..44106431hg38UCSC Ensembl
Innerchr4:44106393..44106429hg38UCSC Ensembl
Outerchr4:44106389..44106433hg38UCSC Ensembl
chr4:44108408..44108448hg19UCSC Ensembl
Innerchr4:44108410..44108446hg19UCSC Ensembl
Outerchr4:44108406..44108450hg19UCSC Ensembl
chr4:43803165..43803205hg18UCSC Ensembl
Innerchr4:43803167..43803203hg18UCSC Ensembl
Outerchr4:43803163..43803207hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864271
SamplesNA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335696
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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