A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690847



Internal ID15060204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4191408..4192806hg38UCSC Ensembl
Innerchr17:4191806..4192408hg38UCSC Ensembl
Outerchr17:4190408..4193806hg38UCSC Ensembl
chr17:4094703..4096101hg19UCSC Ensembl
Innerchr17:4095101..4095703hg19UCSC Ensembl
Outerchr17:4093703..4097101hg19UCSC Ensembl
chr17:4041452..4042850hg18UCSC Ensembl
Innerchr17:4042452..4041850hg18UCSC Ensembl
Outerchr17:4040452..4043850hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336734
Supporting Variants
SamplesNA19239
Known GenesANKFY1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690847
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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