A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688972



Internal ID14702371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49309415..49310713hg38UCSC Ensembl
Innerchr13:49309713..49310415hg38UCSC Ensembl
Outerchr13:49308415..49311713hg38UCSC Ensembl
chr13:49883551..49884849hg19UCSC Ensembl
Innerchr13:49883849..49884551hg19UCSC Ensembl
Outerchr13:49882551..49885849hg19UCSC Ensembl
chr13:48781552..48782850hg18UCSC Ensembl
Innerchr13:48782552..48781850hg18UCSC Ensembl
Outerchr13:48780552..48783850hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449183
Supporting Variants
SamplesNA19239
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688972
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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