A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865645



Internal ID13049292
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 StatusS
Merged Variantsesv3429112
Supporting Variants
SamplesNA07346
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865645
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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