A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305161



Internal ID15152109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42152650..42152651hg38UCSC Ensembl
Innerchr13:42152634..42152667hg38UCSC Ensembl
Outerchr13:42152633..42152668hg38UCSC Ensembl
chr13:42726786..42726787hg19UCSC Ensembl
Innerchr13:42726770..42726803hg19UCSC Ensembl
Outerchr13:42726769..42726804hg19UCSC Ensembl
chr13:41624786..41624787hg18UCSC Ensembl
Innerchr13:41624803..41624770hg18UCSC Ensembl
Outerchr13:41624769..41624804hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7808784, essv7802542, essv7822048, essv7799044, essv7800119, essv7809551, essv7809760, essv7771199, essv7813364, essv7806465, essv7789164, essv7794048, essv7802727, essv7811747, essv7771819, essv7781094
SamplesNA11829, NA10851, NA11920, NA12045, NA07346, NA12287, NA11994, NA11831, NA12489, NA12003, NA12872, NA11894, NA12716, NA11881, NA07037, NA12749
Known GenesDGKH
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305161
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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