A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3333072



Internal ID15180059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10201619..10201627hg38UCSC Ensembl
Innerchr5:10201611..10201633hg38UCSC Ensembl
Outerchr5:10201603..10201641hg38UCSC Ensembl
chr5:10201731..10201739hg19UCSC Ensembl
Innerchr5:10201723..10201745hg19UCSC Ensembl
Outerchr5:10201715..10201753hg19UCSC Ensembl
chr5:10254731..10254739hg18UCSC Ensembl
Innerchr5:10254745..10254723hg18UCSC Ensembl
Outerchr5:10254715..10254753hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38540
hg19540
hg18540
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675727, essv8675726
SamplesNA12891, NA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3333072
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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