A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688752



Internal ID15046591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110394104..110395102hg38UCSC Ensembl
Innerchr13:110394103..110395103hg38UCSC Ensembl
Outerchr13:110393104..110396102hg38UCSC Ensembl
chr13:111046451..111047449hg19UCSC Ensembl
Innerchr13:111046450..111047450hg19UCSC Ensembl
Outerchr13:111045451..111048449hg19UCSC Ensembl
chr13:109844452..109845450hg18UCSC Ensembl
Innerchr13:109845451..109844451hg18UCSC Ensembl
Outerchr13:109843452..109846450hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448379
Supporting Variants
SamplesNA19239
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688752
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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