A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690850



Internal ID14680585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45512103..45520101hg38UCSC Ensembl
Innerchr17:45513103..45519101hg38UCSC Ensembl
Outerchr17:45511103..45521101hg38UCSC Ensembl
chr17:43589469..43597467hg19UCSC Ensembl
Innerchr17:43590469..43596467hg19UCSC Ensembl
Outerchr17:43588469..43598467hg19UCSC Ensembl
chr17:40945252..40953250hg18UCSC Ensembl
Innerchr17:40946252..40952250hg18UCSC Ensembl
Outerchr17:40944252..40954250hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387999
hg197999
hg187999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3425595
Supporting Variants
SamplesNA19238
Known GenesLRRC37A4P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690850
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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