A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308362



Internal ID14808625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44468151..44468152hg38UCSC Ensembl
Innerchr1:44468095..44468208hg38UCSC Ensembl
Outerchr1:44468094..44468209hg38UCSC Ensembl
chr1:44933823..44933824hg19UCSC Ensembl
Innerchr1:44933767..44933880hg19UCSC Ensembl
Outerchr1:44933766..44933881hg19UCSC Ensembl
chr1:44706410..44706411hg18UCSC Ensembl
Innerchr1:44706467..44706354hg18UCSC Ensembl
Outerchr1:44706353..44706468hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837440, essv7838919
SamplesNA19238, NA19240
Known GenesRNF220
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308362
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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