A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690890



Internal ID13732354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46194009..46204207hg38UCSC Ensembl
Innerchr17:46195009..46203207hg38UCSC Ensembl
Outerchr17:46193009..46205207hg38UCSC Ensembl
chr17:44271375..44281573hg19UCSC Ensembl
Innerchr17:44272375..44280573hg19UCSC Ensembl
Outerchr17:44270375..44282573hg19UCSC Ensembl
chr17:41627152..41637350hg18UCSC Ensembl
Innerchr17:41628152..41636350hg18UCSC Ensembl
Outerchr17:41626152..41638350hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810199
hg1910199
hg1810199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3352396
Supporting Variants
SamplesNA12892
Known GenesKANSL1, KANSL1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690890
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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