A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308749



Internal ID14809012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75526876..75526877hg38UCSC Ensembl
Innerchr17:75526854..75526899hg38UCSC Ensembl
Outerchr17:75526853..75526900hg38UCSC Ensembl
chr17:73522957..73522958hg19UCSC Ensembl
Innerchr17:73522935..73522980hg19UCSC Ensembl
Outerchr17:73522934..73522981hg19UCSC Ensembl
chr17:71034552..71034553hg18UCSC Ensembl
Innerchr17:71034575..71034530hg18UCSC Ensembl
Outerchr17:71034529..71034576hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38587
hg19587
hg18587
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7839254
SamplesNA19240
Known GenesLLGL2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308749
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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