A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365153



Internal ID14865413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96800588..96802486hg38UCSC Ensembl
Innerchr2:96801486..96801588hg38UCSC Ensembl
Outerchr2:96799588..96803486hg38UCSC Ensembl
chr2:97466325..97468223hg19UCSC Ensembl
Innerchr2:97467223..97467325hg19UCSC Ensembl
Outerchr2:97465325..97469223hg19UCSC Ensembl
chr2:96830052..96831950hg18UCSC Ensembl
Innerchr2:96831052..96830950hg18UCSC Ensembl
Outerchr2:96829052..96832950hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693782
SamplesNA19240
Known GenesCNNM4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365153
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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