A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365210



Internal ID14865470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56984034..56984053hg38UCSC Ensembl
Innerchr18:56984030..56984057hg38UCSC Ensembl
Outerchr18:56984011..56984076hg38UCSC Ensembl
chr18:54651265..54651284hg19UCSC Ensembl
Innerchr18:54651261..54651288hg19UCSC Ensembl
Outerchr18:54651242..54651307hg19UCSC Ensembl
chr18:52802263..52802282hg18UCSC Ensembl
Innerchr18:52802286..52802259hg18UCSC Ensembl
Outerchr18:52802240..52802305hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9676435
SamplesNA11931
Known GenesWDR7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365210
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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