A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307033



Internal ID14807295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223723855..223723856hg38UCSC Ensembl
Innerchr1:223723838..223723873hg38UCSC Ensembl
Outerchr1:223723837..223723874hg38UCSC Ensembl
chr1:223911557..223911558hg19UCSC Ensembl
Innerchr1:223911540..223911575hg19UCSC Ensembl
Outerchr1:223911539..223911576hg19UCSC Ensembl
chr1:221978180..221978181hg18UCSC Ensembl
Innerchr1:221978198..221978163hg18UCSC Ensembl
Outerchr1:221978162..221978199hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7791214, essv7830391, essv7779597, essv7792007, essv7773232, essv7778086, essv7822845, essv7814478, essv7804004, essv7805300, essv7795176, essv7836529, essv7811908, essv7819842, essv7806357, essv7772491, essv7805821, essv7780807, essv7814219, essv7780630, essv7815080, essv7826448, essv7782960, essv7811244, essv7783356, essv7770217, essv7830496, essv7832771, essv7771438, essv7818502, essv7808963, essv7802260, essv7827983, essv7827586, essv7816070, essv7815836, essv7810811, essv7793367, essv7789289, essv7825580, essv7791486, essv7773085, essv7807418, essv7808337, essv7800461, essv7823321, essv7810041, essv7836102, essv7799627, essv7817045, essv7804408
SamplesNA18861, NA18507, NA11920, NA18603, NA12045, NA18504, NA19190, NA18510, NA18969, NA18940, NA18519, NA18547, NA18960, NA18571, NA12287, NA18498, NA18964, NA19238, NA18520, NA19239, NA18638, NA11993, NA12872, NA18956, NA18516, NA18579, NA18871, NA18948, NA18907, NA18566, NA18573, NA19114, NA18856, NA18853, NA19099, NA19257, NA19225, NA12144, NA18523, NA18858, NA18542, NA11881, NA19108, NA18961, NA12763, NA18501, NA12749, NA19116, NA18552, NA18511, NA12776
Known GenesCAPN2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307033
Frequency
Sample Size185
Observed Gain51
Observed Loss0
Observed Complex0
Frequencyn/a


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