A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690916



Internal ID13732353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46494470..46498868hg38UCSC Ensembl
Innerchr17:46495470..46497868hg38UCSC Ensembl
Outerchr17:46493470..46499868hg38UCSC Ensembl
chr17:44571836..44576234hg19UCSC Ensembl
Innerchr17:44572836..44575234hg19UCSC Ensembl
Outerchr17:44570836..44577234hg19UCSC Ensembl
chr17:41927152..41931550hg18UCSC Ensembl
Innerchr17:41928152..41930550hg18UCSC Ensembl
Outerchr17:41926152..41932550hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384399
hg194399
hg184399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3386130
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690916
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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