A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589897



Internal ID6977227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14712751..14715113hg38UCSC Ensembl
Innerchr2:14712759..14715106hg38UCSC Ensembl
Outerchr2:14712744..14715121hg38UCSC Ensembl
chr2:14852875..14855237hg19UCSC Ensembl
Innerchr2:14852883..14855230hg19UCSC Ensembl
Outerchr2:14852868..14855245hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382363
hg192363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10415003, essv10415045, essv10415019, essv10415040, essv10415015, essv10415011, essv10414998, essv10414999, essv10415043, essv10415025, essv10415004, essv10414989, essv10415007, essv10414997, essv10415010, essv10415038, essv10415020, essv10415028, essv10415023, essv10415026, essv10415029, essv10415047, essv10415000, essv10415006, essv10415027, essv10415024, essv10415018, essv10415009, essv10415031, essv10415039, essv10414994, essv10415002, essv10415016, essv10414996, essv10414992, essv10415035, essv10415030, essv10415014, essv10415032, essv10415005, essv10414993, essv10415021, essv10414991, essv10415037, essv10415033, essv10415022, essv10415046, essv10415041, essv10415017, essv10415044, essv10414988, essv10415036, essv10415013, essv10414987, essv10414995, essv10415008, essv10415042, essv10415001, essv10414990, essv10415034, essv10415012
SamplesHG01402, HG02628, HG03247, HG02337, HG02798, NA18917, HG02891, HG03130, HG02804, HG02476, NA19355, NA18504, HG03193, HG03372, HG02621, NA19319, HG03168, HG03135, HG02854, HG02489, HG02505, HG02281, HG02634, HG03380, HG02946, HG02623, HG03169, HG02943, NA19184, HG02511, NA18910, HG02968, HG02497, HG03294, HG02555, HG03136, NA18912, HG03046, HG02256, NA18858, HG03567, NA19206, HG02282, HG03367, NA19434, HG03539, HG03259, HG01108, NA20357, HG02095, HG01912, HG03097, NA19185, HG02676, HG02051, HG02947, HG02763, HG03118, HG03129, HG02006, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589897
Frequency
Sample Size2504
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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