A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7760503



Internal ID13142650
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 StatusS
Merged Variantsesv3304720
Supporting Variants
SamplesNA11831
Known GenesCDH7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7760503
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