A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440295



Internal ID14940562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718998..46719070hg38UCSC Ensembl
Innerchr13:46719005..46719063hg38UCSC Ensembl
Outerchr13:46718991..46719077hg38UCSC Ensembl
chr13:47293133..47293205hg19UCSC Ensembl
Innerchr13:47293140..47293198hg19UCSC Ensembl
Outerchr13:47293126..47293212hg19UCSC Ensembl
chr13:46191134..46191206hg18UCSC Ensembl
Innerchr13:46191141..46191199hg18UCSC Ensembl
Outerchr13:46191127..46191213hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3873
hg1973
hg1873
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8670613, essv8670614, essv8670612, essv8670611
SamplesNA12891, NA12878, NA12892, NA19240
Known GenesLRCH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440295
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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