A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690917



Internal ID13660747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46494770..46496468hg38UCSC Ensembl
Innerchr17:46495468..46495770hg38UCSC Ensembl
Outerchr17:46493770..46497468hg38UCSC Ensembl
chr17:44572136..44573834hg19UCSC Ensembl
Innerchr17:44572834..44573136hg19UCSC Ensembl
Outerchr17:44571136..44574834hg19UCSC Ensembl
chr17:41927452..41929150hg18UCSC Ensembl
Innerchr17:41928452..41928150hg18UCSC Ensembl
Outerchr17:41926452..41930150hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369097
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690917
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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