A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439162



Internal ID14939429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411653..5411667hg38UCSC Ensembl
Innerchr18:5411646..5411671hg38UCSC Ensembl
Outerchr18:5411632..5411685hg38UCSC Ensembl
chr18:5411652..5411666hg19UCSC Ensembl
Innerchr18:5411645..5411670hg19UCSC Ensembl
Outerchr18:5411631..5411684hg19UCSC Ensembl
chr18:5401652..5401666hg18UCSC Ensembl
Innerchr18:5401670..5401645hg18UCSC Ensembl
Outerchr18:5401631..5401684hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673616, essv8673617
SamplesNA19238, NA19240
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439162
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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