A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310380



Internal ID15157331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7864789..7864790hg38UCSC Ensembl
Innerchr5:7864747..7864832hg38UCSC Ensembl
Outerchr5:7864746..7864833hg38UCSC Ensembl
chr5:7864902..7864903hg19UCSC Ensembl
Innerchr5:7864860..7864945hg19UCSC Ensembl
Outerchr5:7864859..7864946hg19UCSC Ensembl
chr5:7917902..7917903hg18UCSC Ensembl
Innerchr5:7917945..7917860hg18UCSC Ensembl
Outerchr5:7917859..7917946hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838654
SamplesNA19238
Known GenesFASTKD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310380
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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