A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429652



Internal ID15276608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73668954..73669003hg38UCSC Ensembl
Innerchr13:73668877..73669080hg38UCSC Ensembl
Outerchr13:73668828..73669129hg38UCSC Ensembl
chr13:74243091..74243140hg19UCSC Ensembl
Innerchr13:74243014..74243217hg19UCSC Ensembl
Outerchr13:74242965..74243266hg19UCSC Ensembl
chr13:73141092..73141141hg18UCSC Ensembl
Innerchr13:73141218..73141015hg18UCSC Ensembl
Outerchr13:73140966..73141267hg18UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863228, essv7863229
SamplesNA18516, NA18871
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429652
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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