A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303087



Internal ID14803349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30933325..30933446hg38UCSC Ensembl
Innerchr12:30933385..30933385hg38UCSC Ensembl
Outerchr12:30933225..30933546hg38UCSC Ensembl
chr12:31086259..31086380hg19UCSC Ensembl
Innerchr12:31086319..31086319hg19UCSC Ensembl
Outerchr12:31086159..31086480hg19UCSC Ensembl
chr12:30977526..30977647hg18UCSC Ensembl
Innerchr12:30977586..30977586hg18UCSC Ensembl
Outerchr12:30977426..30977747hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38122
hg19122
hg18122
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7739222, essv7737279, essv7738319, essv7732877, essv7736958, essv7734725, essv7736576, essv7733375
SamplesNA11881, NA18951, NA18948, NA11931, NA12287, NA19005, NA18945, NA10851
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303087
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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