A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3323984



Internal ID14824265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181619206..181619223hg38UCSC Ensembl
Innerchr1:181619200..181619229hg38UCSC Ensembl
Outerchr1:181619183..181619246hg38UCSC Ensembl
chr1:181588342..181588359hg19UCSC Ensembl
Innerchr1:181588336..181588365hg19UCSC Ensembl
Outerchr1:181588319..181588382hg19UCSC Ensembl
chr1:179854965..179854982hg18UCSC Ensembl
Innerchr1:179854988..179854959hg18UCSC Ensembl
Outerchr1:179854942..179855005hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8902010, essv8902009, essv8902012, essv8902013, essv8902011, essv8902008, essv8902018, essv8902006, essv8902020, essv8902005, essv8902016, essv8902007, essv8902019, essv8902015, essv8902017
SamplesNA12489, NA07347, NA07037, NA11920, NA18912, NA12004, NA18566, NA12155, NA12006, NA19129, NA18510, NA18502, NA19225, NA18519, NA07000
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3323984
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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