A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690846



Internal ID15027246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4191308..4192706hg38UCSC Ensembl
Innerchr17:4191706..4192308hg38UCSC Ensembl
Outerchr17:4190308..4193706hg38UCSC Ensembl
chr17:4094603..4096001hg19UCSC Ensembl
Innerchr17:4095001..4095603hg19UCSC Ensembl
Outerchr17:4093603..4097001hg19UCSC Ensembl
chr17:4041352..4042750hg18UCSC Ensembl
Innerchr17:4042352..4041750hg18UCSC Ensembl
Outerchr17:4040352..4043750hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3394792
Supporting Variants
SamplesNA19238
Known GenesANKFY1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690846
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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