A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432015



Internal ID15278971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30420315..30421313hg38UCSC Ensembl
Innerchr13:30420314..30421314hg38UCSC Ensembl
Outerchr13:30419315..30422313hg38UCSC Ensembl
chr13:30994452..30995450hg19UCSC Ensembl
Innerchr13:30994451..30995451hg19UCSC Ensembl
Outerchr13:30993452..30996450hg19UCSC Ensembl
chr13:29892452..29893450hg18UCSC Ensembl
Innerchr13:29893451..29892451hg18UCSC Ensembl
Outerchr13:29891452..29894450hg18UCSC Ensembl
Cytoband13q12.3
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 Variantsessv8688924
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432015
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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