A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398562



Internal ID14898839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74733264..74733643hg38UCSC Ensembl
Innerchr17:74733264..74733643hg38UCSC Ensembl
Outerchr17:74732494..74735605hg38UCSC Ensembl
chr17:72729403..72729782hg19UCSC Ensembl
Innerchr17:72729403..72729782hg19UCSC Ensembl
Outerchr17:72728633..72731744hg19UCSC Ensembl
chr17:70240998..70241377hg18UCSC Ensembl
Innerchr17:70240998..70241377hg18UCSC Ensembl
Outerchr17:70240228..70243339hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38380
hg19380
hg18380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651971
SamplesNA19240
Known GenesRAB37
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398562
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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