A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304372



Internal ID14804634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:54121182..54121183hg38UCSC Ensembl
Innerchr10:54121161..54121204hg38UCSC Ensembl
Outerchr10:54121160..54121205hg38UCSC Ensembl
chr10:55880942..55880943hg19UCSC Ensembl
Innerchr10:55880921..55880964hg19UCSC Ensembl
Outerchr10:55880920..55880965hg19UCSC Ensembl
chr10:55550948..55550949hg18UCSC Ensembl
Innerchr10:55550970..55550927hg18UCSC Ensembl
Outerchr10:55550926..55550971hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7832464, essv7789681, essv7781519, essv7777836, essv7823093, essv7818608, essv7809102, essv7807017, essv7811194
SamplesNA18871, NA19114, NA19093, NA18517, NA18507, NA12287, NA19102, NA18502, NA18853
Known GenesPCDH15
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304372
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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