A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373422



Internal ID15220397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110424439..110424458hg38UCSC Ensembl
Innerchr13:110424435..110424462hg38UCSC Ensembl
Outerchr13:110424416..110424481hg38UCSC Ensembl
chr13:111076786..111076805hg19UCSC Ensembl
Innerchr13:111076782..111076809hg19UCSC Ensembl
Outerchr13:111076763..111076828hg19UCSC Ensembl
chr13:109874787..109874806hg18UCSC Ensembl
Innerchr13:109874810..109874783hg18UCSC Ensembl
Outerchr13:109874764..109874829hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9663958, essv9663925, essv9663947, essv9663969, essv9663936, essv9663991, essv9663980, essv9663914
SamplesNA12814, NA12045, NA18970, NA12815, NA12234, NA12249, NA12873, NA19143
Known GenesCOL4A2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373422
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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