A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364230



Internal ID15211208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65814370..65814396hg38UCSC Ensembl
Innerchr18:65814375..65814388hg38UCSC Ensembl
Outerchr18:65814352..65814414hg38UCSC Ensembl
chr18:63481606..63481632hg19UCSC Ensembl
Innerchr18:63481611..63481624hg19UCSC Ensembl
Outerchr18:63481588..63481650hg19UCSC Ensembl
chr18:61632586..61632612hg18UCSC Ensembl
Innerchr18:61632604..61632591hg18UCSC Ensembl
Outerchr18:61632568..61632630hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8974144, essv8974146, essv8974148, essv8974145, essv8974143
SamplesNA18489, NA11831, NA18907, NA18853, NA18517
Known GenesCDH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364230
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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