A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307372



Internal ID15154320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85787413..85787414hg38UCSC Ensembl
Innerchr13:85787383..85787444hg38UCSC Ensembl
Outerchr13:85787382..85787445hg38UCSC Ensembl
chr13:86361548..86361549hg19UCSC Ensembl
Innerchr13:86361518..86361579hg19UCSC Ensembl
Outerchr13:86361517..86361580hg19UCSC Ensembl
chr13:85259549..85259550hg18UCSC Ensembl
Innerchr13:85259580..85259519hg18UCSC Ensembl
Outerchr13:85259518..85259581hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753689, essv7762024, essv7762890, essv7753276, essv7756886, essv7760584, essv7743765, essv7742057, essv7744349, essv7762381, essv7748968, essv7752121, essv7747367, essv7748459, essv7753741, essv7749111, essv7757867, essv7741577, essv7752613, essv7752365, essv7758064, essv7757769, essv7750781, essv7753171, essv7743415, essv7754222, essv7759646, essv7743507, essv7760688, essv7762515, essv7748747, essv7755300
SamplesNA18502, NA12717, NA11830, NA18947, NA18592, NA10851, NA18980, NA11931, NA18603, NA18563, NA18944, NA18550, NA12891, NA18942, NA18949, NA12761, NA12828, NA18973, NA11993, NA18605, NA12489, NA12878, NA18956, NA18948, NA18566, NA11894, NA12249, NA18952, NA18564, NA07037, NA07000, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307372
Frequency
Sample Size185
Observed Gain32
Observed Loss0
Observed Complex0
Frequencyn/a


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