A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303118



Internal ID14803380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3669122..3669123hg38UCSC Ensembl
Innerchr18:3669100..3669145hg38UCSC Ensembl
Outerchr18:3669099..3669146hg38UCSC Ensembl
chr18:3669122..3669123hg19UCSC Ensembl
Innerchr18:3669100..3669145hg19UCSC Ensembl
Outerchr18:3669099..3669146hg19UCSC Ensembl
chr18:3659122..3659123hg18UCSC Ensembl
Innerchr18:3659145..3659100hg18UCSC Ensembl
Outerchr18:3659099..3659146hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764524, essv7766005, essv7765546, essv7764876
SamplesNA12249, NA11840, NA12873, NA12812
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303118
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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