A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305228



Internal ID14805490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41327730..41327731hg38UCSC Ensembl
Innerchr13:41327703..41327758hg38UCSC Ensembl
Outerchr13:41327702..41327759hg38UCSC Ensembl
chr13:41901866..41901867hg19UCSC Ensembl
Innerchr13:41901839..41901894hg19UCSC Ensembl
Outerchr13:41901838..41901895hg19UCSC Ensembl
chr13:40799866..40799867hg18UCSC Ensembl
Innerchr13:40799894..40799839hg18UCSC Ensembl
Outerchr13:40799838..40799895hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38202
hg19202
hg18202
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746879, essv7743084, essv7754867, essv7763141, essv7758700, essv7742397, essv7755477, essv7760206, essv7754027, essv7749824, essv7741567, essv7742273, essv7746379, essv7740920
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)esv3305228
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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