A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691239



Internal ID15061907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58129722..58130620hg38UCSC Ensembl
Innerchr18:58129721..58130621hg38UCSC Ensembl
Outerchr18:58128722..58131620hg38UCSC Ensembl
chr18:55796954..55797852hg19UCSC Ensembl
Innerchr18:55796953..55797853hg19UCSC Ensembl
Outerchr18:55795954..55798852hg19UCSC Ensembl
chr18:53947952..53948850hg18UCSC Ensembl
Innerchr18:53948851..53947951hg18UCSC Ensembl
Outerchr18:53946952..53949850hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364192
Supporting Variants
SamplesNA19239
Known GenesNEDD4L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691239
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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