A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701328



Internal ID13642420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46811290..46811290hg38UCSC Ensembl
Outerchr17:46811074..46811340hg38UCSC Ensembl
chr17:44888656..44888656hg19UCSC Ensembl
Outerchr17:44888440..44888706hg19UCSC Ensembl
chr17:42243655..42243655hg18UCSC Ensembl
Innerchr17:42243656..42243654hg18UCSC Ensembl
Outerchr17:42243605..42243705hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38166
hg19166
hg18166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435685
Supporting Variants
SamplesNA12878
Known GenesWNT3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701328
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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