A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688843



Internal ID14739308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113841520..113841818hg38UCSC Ensembl
Innerchr13:113841519..113841819hg38UCSC Ensembl
Outerchr13:113840520..113842818hg38UCSC Ensembl
chr13:114544493..114544791hg19UCSC Ensembl
Innerchr13:114544492..114544792hg19UCSC Ensembl
Outerchr13:114543493..114545791hg19UCSC Ensembl
chr13:113569152..113569450hg18UCSC Ensembl
Innerchr13:113569451..113569151hg18UCSC Ensembl
Outerchr13:113568152..113570450hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395766
Supporting Variants
SamplesNA19240
Known GenesGAS6, GAS6-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688843
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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