A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7789461



Internal ID13875188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59225134..59225135hg38UCSC Ensembl
Innerchr10:59225115..59225154hg38UCSC Ensembl
Outerchr10:59225114..59225155hg38UCSC Ensembl
chr10:60984894..60984895hg19UCSC Ensembl
Innerchr10:60984875..60984914hg19UCSC Ensembl
Outerchr10:60984874..60984915hg19UCSC Ensembl
chr10:60654900..60654901hg18UCSC Ensembl
Innerchr10:60654920..60654881hg18UCSC Ensembl
Outerchr10:60654880..60654921hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305207
Supporting Variants
SamplesNA18517
Known GenesPHYHIPL
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7789461
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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