A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307758



Internal ID15154706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95679150..95679151hg38UCSC Ensembl
Innerchr13:95679109..95679192hg38UCSC Ensembl
Outerchr13:95679108..95679193hg38UCSC Ensembl
chr13:96331404..96331405hg19UCSC Ensembl
Innerchr13:96331363..96331446hg19UCSC Ensembl
Outerchr13:96331362..96331447hg19UCSC Ensembl
chr13:95129405..95129406hg18UCSC Ensembl
Innerchr13:95129447..95129364hg18UCSC Ensembl
Outerchr13:95129363..95129448hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg381517
hg191517
hg181517
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7761724, essv7755692, essv7750617, essv7762260, essv7753382
SamplesNA18489, NA19238, NA19099, NA19257, NA19108
Known GenesDNAJC3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307758
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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