A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8963962



Internal ID13869267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101099061..101099073hg38UCSC Ensembl
Innerchr13:101099055..101099077hg38UCSC Ensembl
Outerchr13:101099043..101099091hg38UCSC Ensembl
chr13:101751412..101751424hg19UCSC Ensembl
Innerchr13:101751406..101751428hg19UCSC Ensembl
Outerchr13:101751394..101751442hg19UCSC Ensembl
chr13:100549413..100549425hg18UCSC Ensembl
Innerchr13:100549429..100549407hg18UCSC Ensembl
Outerchr13:100549395..100549443hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3399391
Supporting Variants
SamplesNA18517
Known GenesNALCN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8963962
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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