A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418171



Internal ID14918443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50085306..50086376hg38UCSC Ensembl
Innerchr17:50085306..50086376hg38UCSC Ensembl
Outerchr17:50085304..50086769hg38UCSC Ensembl
chr17:48162670..48163740hg19UCSC Ensembl
Innerchr17:48162670..48163740hg19UCSC Ensembl
Outerchr17:48162668..48164133hg19UCSC Ensembl
chr17:45517669..45518739hg18UCSC Ensembl
Innerchr17:45517669..45518739hg18UCSC Ensembl
Outerchr17:45517667..45519132hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381071
hg191071
hg181071
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651965
SamplesNA19240
Known GenesITGA3
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418171
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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