A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3383575



Internal ID15230545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52024315..52025313hg38UCSC Ensembl
Innerchr13:52024314..52025314hg38UCSC Ensembl
Outerchr13:52023315..52026313hg38UCSC Ensembl
chr13:52598451..52599449hg19UCSC Ensembl
Innerchr13:52598450..52599450hg19UCSC Ensembl
Outerchr13:52597451..52600449hg19UCSC Ensembl
chr13:51496452..51497450hg18UCSC Ensembl
Innerchr13:51497451..51496451hg18UCSC Ensembl
Outerchr13:51495452..51498450hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688974
SamplesNA19239
Known GenesALG11, UTP14C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3383575
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer