A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8960295



Internal ID13940031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46073595..46073607hg38UCSC Ensembl
Innerchr13:46073586..46073616hg38UCSC Ensembl
Outerchr13:46073572..46073628hg38UCSC Ensembl
chr13:46647730..46647742hg19UCSC Ensembl
Innerchr13:46647721..46647751hg19UCSC Ensembl
Outerchr13:46647707..46647763hg19UCSC Ensembl
chr13:45545731..45545743hg18UCSC Ensembl
Innerchr13:45545752..45545722hg18UCSC Ensembl
Outerchr13:45545708..45545764hg18UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3340783
Supporting Variants
SamplesNA18532
Known GenesCPB2, CPB2-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8960295
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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