A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304720



Internal ID15151668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65814375..65814376hg38UCSC Ensembl
Innerchr18:65814341..65814410hg38UCSC Ensembl
Outerchr18:65814340..65814411hg38UCSC Ensembl
chr18:63481611..63481612hg19UCSC Ensembl
Innerchr18:63481577..63481646hg19UCSC Ensembl
Outerchr18:63481576..63481647hg19UCSC Ensembl
chr18:61632591..61632592hg18UCSC Ensembl
Innerchr18:61632626..61632557hg18UCSC Ensembl
Outerchr18:61632556..61632627hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7762209, essv7763037, essv7760503, essv7753994, essv7740990
SamplesNA18489, NA11831, NA18907, NA18853, NA18517
Known GenesCDH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304720
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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