A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302644



Internal ID14802906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718990..46719064hg38UCSC Ensembl
Innerchr13:46719027..46719027hg38UCSC Ensembl
Outerchr13:46718890..46719164hg38UCSC Ensembl
chr13:47293125..47293199hg19UCSC Ensembl
Innerchr13:47293162..47293162hg19UCSC Ensembl
Outerchr13:47293025..47293299hg19UCSC Ensembl
chr13:46191126..46191200hg18UCSC Ensembl
Innerchr13:46191163..46191163hg18UCSC Ensembl
Outerchr13:46191026..46191300hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731336, essv7731650, essv7731066, essv7731160
SamplesNA12892, NA12891, NA12878, NA19240
Known GenesLRCH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302644
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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