A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449351



Internal ID15296300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58209157..58209457hg38UCSC Ensembl
Innerchr18:58209157..58209457hg38UCSC Ensembl
Outerchr18:58208626..58209492hg38UCSC Ensembl
chr18:55876389..55876689hg19UCSC Ensembl
Innerchr18:55876389..55876689hg19UCSC Ensembl
Outerchr18:55875858..55876724hg19UCSC Ensembl
chr18:54027387..54027669hg18UCSC Ensembl
Innerchr18:54027387..54027669hg18UCSC Ensembl
Outerchr18:54026856..54027704hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38301
hg19301
hg18283
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651996
SamplesNA19240
Known GenesNEDD4L
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449351
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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