A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395120



Internal ID15242084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18049964..18049964hg38UCSC Ensembl
Innerchr17:18049963..18049965hg38UCSC Ensembl
Outerchr17:18049914..18050014hg38UCSC Ensembl
chr17:17953278..17953278hg19UCSC Ensembl
Innerchr17:17953277..17953279hg19UCSC Ensembl
Outerchr17:17953228..17953328hg19UCSC Ensembl
chr17:17894003..17894003hg18UCSC Ensembl
Innerchr17:17894004..17894002hg18UCSC Ensembl
Outerchr17:17893953..17894053hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381476
hg191476
hg181476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740863
SamplesNA19240
Known GenesGID4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395120
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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