A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8974143



Internal ID13748880
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 StatusS
Merged Variantsesv3364230
Supporting Variants
SamplesNA18489
Known GenesCDH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8974143
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer