A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637800



Internal ID6677900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7371858..7373724hg38UCSC Ensembl
Innerchr16:7371858..7373724hg38UCSC Ensembl
Outerchr16:7371467..7374065hg38UCSC Ensembl
chr16:7421859..7423725hg19UCSC Ensembl
Innerchr16:7421859..7423725hg19UCSC Ensembl
Outerchr16:7421468..7424066hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381867
hg191867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15366889, essv15366922, essv15366919, essv15366925, essv15366905, essv15366917, essv15366900, essv15366895, essv15366897, essv15366910, essv15366915, essv15366901, essv15366913, essv15366923, essv15366887, essv15366896, essv15366899, essv15366884, essv15366903, essv15366906, essv15366886, essv15366916, essv15366904, essv15366902, essv15366921, essv15366912, essv15366894, essv15366908, essv15366914, essv15366907, essv15366926, essv15366911, essv15366888, essv15366924, essv15366920, essv15366890, essv15366892, essv15366885, essv15366898, essv15366909, essv15366893, essv15366927, essv15366891, essv15366918, essv15366928
SamplesHG02140, HG00537, HG01846, HG02184, NA18530, HG02407, HG00632, NA18948, HG01816, HG00475, NA18573, HG00446, HG00479, HG02133, NA18632, NA18979, NA18624, HG00421, NA18957, NA18618, NA18644, HG02032, HG02410, NA19066, HG00533, HG02078, HG01867, HG02356, HG00620, HG02127, HG02185, NA19002, NA18558, NA18977, HG00525, NA18562, HG02180, NA18606, NA19078, NA18538, NA18631, NA21086, HG00473, HG00598, HG00476
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637800
Frequency
Sample Size2504
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer