A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651870



Internal ID14753625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113841391..113842121hg38UCSC Ensembl
Innerchr13:113841391..113842121hg38UCSC Ensembl
Outerchr13:113840312..113842507hg38UCSC Ensembl
chr13:114544364..114545094hg19UCSC Ensembl
Innerchr13:114544364..114545094hg19UCSC Ensembl
Outerchr13:114543285..114545480hg19UCSC Ensembl
chr13:113568849..113569579hg18UCSC Ensembl
Innerchr13:113568849..113569579hg18UCSC Ensembl
Outerchr13:113568463..113570658hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38731
hg19731
hg18731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410329
Supporting Variants
SamplesNA19240
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651870
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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