A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429112



Internal ID15276068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28774411..28774429hg38UCSC Ensembl
Innerchr13:28774413..28774427hg38UCSC Ensembl
Outerchr13:28774409..28774431hg38UCSC Ensembl
chr13:29348548..29348566hg19UCSC Ensembl
Innerchr13:29348550..29348564hg19UCSC Ensembl
Outerchr13:29348546..29348568hg19UCSC Ensembl
chr13:28246548..28246566hg18UCSC Ensembl
Innerchr13:28246550..28246564hg18UCSC Ensembl
Outerchr13:28246546..28246568hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865646, essv7865645
SamplesNA07346, NA19172
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429112
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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