A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322672



Internal ID15169646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41327738..41327744hg38UCSC Ensembl
Innerchr13:41327730..41327750hg38UCSC Ensembl
Outerchr13:41327724..41327756hg38UCSC Ensembl
chr13:41901874..41901880hg19UCSC Ensembl
Innerchr13:41901866..41901886hg19UCSC Ensembl
Outerchr13:41901860..41901892hg19UCSC Ensembl
chr13:40799874..40799880hg18UCSC Ensembl
Innerchr13:40799886..40799866hg18UCSC Ensembl
Outerchr13:40799860..40799892hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8960060, essv8960051, essv8960056, essv8960050, essv8960061, essv8960057, essv8960055, essv8960054, essv8960062, essv8960053, essv8960047, essv8960049, essv8960052, essv8960058
SamplesNA18502, NA18519, NA18916, NA19138, NA19137, NA18520, NA18907, NA18853, NA18523, NA18858, NA19108, NA18501, NA19093, NA19129
Known GenesNAA16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322672
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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