A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863202



Internal ID14950801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26281568..26281624hg38UCSC Ensembl
Innerchr13:26281580..26281612hg38UCSC Ensembl
Outerchr13:26281524..26281668hg38UCSC Ensembl
chr13:26855705..26855761hg19UCSC Ensembl
Innerchr13:26855717..26855749hg19UCSC Ensembl
Outerchr13:26855661..26855805hg19UCSC Ensembl
chr13:25753705..25753761hg18UCSC Ensembl
Innerchr13:25753749..25753717hg18UCSC Ensembl
Outerchr13:25753661..25753805hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361608
Supporting Variants
SamplesNA19172
Known GenesCDK8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863202
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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