A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690914



Internal ID13661442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46493570..46494268hg38UCSC Ensembl
Innerchr17:46493569..46494269hg38UCSC Ensembl
Outerchr17:46492570..46495268hg38UCSC Ensembl
chr17:44570936..44571634hg19UCSC Ensembl
Innerchr17:44570935..44571635hg19UCSC Ensembl
Outerchr17:44569936..44572634hg19UCSC Ensembl
chr17:41926252..41926950hg18UCSC Ensembl
Innerchr17:41926951..41926251hg18UCSC Ensembl
Outerchr17:41925252..41927950hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369964
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690914
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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