A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690952



Internal ID15027601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54161092..54163090hg38UCSC Ensembl
Innerchr17:54162090..54162092hg38UCSC Ensembl
Outerchr17:54160092..54164090hg38UCSC Ensembl
chr17:52238453..52240451hg19UCSC Ensembl
Innerchr17:52239451..52239453hg19UCSC Ensembl
Outerchr17:52237453..52241451hg19UCSC Ensembl
chr17:49593452..49595450hg18UCSC Ensembl
Innerchr17:49594452..49594450hg18UCSC Ensembl
Outerchr17:49592452..49596450hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347132
Supporting Variants
SamplesNA19238
Known GenesMIR548AJ2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690952
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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