A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445895



Internal ID15292845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23420876..23423174hg38UCSC Ensembl
Innerchr2:23421876..23422174hg38UCSC Ensembl
Outerchr2:23419876..23424174hg38UCSC Ensembl
chr2:23643747..23646045hg19UCSC Ensembl
Innerchr2:23644747..23645045hg19UCSC Ensembl
Outerchr2:23642747..23647045hg19UCSC Ensembl
chr2:23497252..23499550hg18UCSC Ensembl
Innerchr2:23498252..23498550hg18UCSC Ensembl
Outerchr2:23496252..23500550hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693511
SamplesNA19240
Known GenesKLHL29
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445895
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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