A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347440



Internal ID14847705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75526882..75526901hg38UCSC Ensembl
Innerchr17:75526878..75526905hg38UCSC Ensembl
Outerchr17:75526859..75526924hg38UCSC Ensembl
chr17:73522963..73522982hg19UCSC Ensembl
Innerchr17:73522959..73522986hg19UCSC Ensembl
Outerchr17:73522940..73523005hg19UCSC Ensembl
chr17:71034558..71034577hg18UCSC Ensembl
Innerchr17:71034581..71034554hg18UCSC Ensembl
Outerchr17:71034535..71034600hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678237
SamplesNA19240
Known GenesLLGL2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347440
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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