A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691105



Internal ID15103994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12429453..12431251hg38UCSC Ensembl
Innerchr18:12430251..12430453hg38UCSC Ensembl
Outerchr18:12428453..12432251hg38UCSC Ensembl
chr18:12429452..12431250hg19UCSC Ensembl
Innerchr18:12430250..12430452hg19UCSC Ensembl
Outerchr18:12428452..12432250hg19UCSC Ensembl
chr18:12419452..12421250hg18UCSC Ensembl
Innerchr18:12420452..12420250hg18UCSC Ensembl
Outerchr18:12418452..12422250hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341464
Supporting Variants
SamplesNA19240
Known GenesSLMO1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691105
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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