A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808641



Internal ID13643951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105994390..105995006hg38UCSC Ensembl
Innerchr13:105994389..105995007hg38UCSC Ensembl
Outerchr13:105994280..105995126hg38UCSC Ensembl
chr13:106646739..106647355hg19UCSC Ensembl
Innerchr13:106646738..106647356hg19UCSC Ensembl
Outerchr13:106646629..106647475hg19UCSC Ensembl
chr13:105444740..105445356hg18UCSC Ensembl
Innerchr13:105445357..105444739hg18UCSC Ensembl
Outerchr13:105444630..105445476hg18UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg38617
hg19617
hg18617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3421796
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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