A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302774



Internal ID14803036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14101383..14101574hg38UCSC Ensembl
Innerchr8:14101478..14101478hg38UCSC Ensembl
Outerchr8:14101283..14101674hg38UCSC Ensembl
chr8:13958892..13959083hg19UCSC Ensembl
Innerchr8:13958987..13958987hg19UCSC Ensembl
Outerchr8:13958792..13959183hg19UCSC Ensembl
chr8:14003263..14003454hg18UCSC Ensembl
Innerchr8:14003358..14003358hg18UCSC Ensembl
Outerchr8:14003163..14003554hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4092e59
Supporting Variantsessv7737999, essv7736394, essv7732795, essv7733756, essv7737672, essv7738887, essv7736619, essv7739185, essv7731771, essv7738392, essv7733282, essv7735019, essv7735075, essv7731865, essv7734099, essv7737526, essv7738447, essv7735585, essv7734412, essv7733837, essv7733498, essv7736417, essv7734783, essv7732408, essv7738295, essv7735216, essv7738252, essv7737513, essv7734487, essv7735683, essv7732109, essv7732223, essv7734377, essv7736931, essv7738989, essv7735829
SamplesNA11829, NA18592, NA10851, NA12045, NA12751, NA12155, NA07357, NA12891, NA18558, NA18942, NA11992, NA07347, NA18571, NA12761, NA12828, NA11993, NA10847, NA18951, NA12003, NA12878, NA18579, NA18566, NA11919, NA12249, NA18555, NA12144, NA18570, NA18961, NA18952, NA07051, NA06986, NA12749, NA12006, NA12154, NA18965, NA18577
Known GenesSGCZ
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302774
Frequency
Sample Size185
Observed Gain36
Observed Loss0
Observed Complex0
Frequencyn/a


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