A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303289



Internal ID15150237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53258096..53258097hg38UCSC Ensembl
Innerchr13:53258043..53258150hg38UCSC Ensembl
Outerchr13:53258042..53258151hg38UCSC Ensembl
chr13:53832231..53832232hg19UCSC Ensembl
Innerchr13:53832178..53832285hg19UCSC Ensembl
Outerchr13:53832177..53832286hg19UCSC Ensembl
chr13:52730232..52730233hg18UCSC Ensembl
Innerchr13:52730286..52730179hg18UCSC Ensembl
Outerchr13:52730178..52730287hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7748750, essv7745550, essv7753158, essv7750791, essv7752600, essv7761924, essv7754841, essv7753659, essv7744416, essv7757823, essv7743311, essv7747713, essv7751729, essv7751076, essv7757506, essv7760757, essv7740736, essv7745804, essv7751492, essv7743991, essv7755669, essv7752905
SamplesNA18861, NA18592, NA18507, NA11931, NA18942, NA18916, NA18949, NA11993, NA18956, NA18948, NA11894, NA19225, NA18945, NA11881, NA19108, NA19147, NA07037, NA12749, NA18505, NA18511, NA12776, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303289
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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