A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3445699



Internal ID14945964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113817237..113817489hg38UCSC Ensembl
Innerchr13:113817237..113817489hg38UCSC Ensembl
Outerchr13:113816759..113817809hg38UCSC Ensembl
chr13:114520210..114520462hg19UCSC Ensembl
Innerchr13:114520210..114520462hg19UCSC Ensembl
Outerchr13:114519732..114520782hg19UCSC Ensembl
chr13:113593481..113593733hg18UCSC Ensembl
Innerchr13:113593481..113593733hg18UCSC Ensembl
Outerchr13:113593161..113594211hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38253
hg19253
hg18253
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651871
SamplesNA19240
Known GenesGAS6-AS1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3445699
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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