A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307148



Internal ID15154096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9624546..9624547hg38UCSC Ensembl
Innerchr20:9624530..9624563hg38UCSC Ensembl
Outerchr20:9624529..9624564hg38UCSC Ensembl
chr20:9605193..9605194hg19UCSC Ensembl
Innerchr20:9605177..9605210hg19UCSC Ensembl
Outerchr20:9605176..9605211hg19UCSC Ensembl
chr20:9553193..9553194hg18UCSC Ensembl
Innerchr20:9553210..9553177hg18UCSC Ensembl
Outerchr20:9553176..9553211hg18UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7775830, essv7816281, essv7808175, essv7812167, essv7805613, essv7795447, essv7795992, essv7791173, essv7833115, essv7807709, essv7788205, essv7823156, essv7774684, essv7826486, essv7815617, essv7835820, essv7831044, essv7792360, essv7829595, essv7776845, essv7822413, essv7806382, essv7821105, essv7795887, essv7804166, essv7808326, essv7772756, essv7832004, essv7801990, essv7793336, essv7784164, essv7786847, essv7803689, essv7783550
SamplesNA18980, NA18504, NA18959, NA18940, NA18550, NA18558, NA18547, NA07347, NA18571, NA19138, NA18520, NA18951, NA18605, NA18572, NA18537, NA11919, NA18856, NA18912, NA18853, NA19099, NA19257, NA18555, NA19225, NA18570, NA18608, NA18542, NA18961, NA18564, NA12763, NA18501, NA18609, NA19116, NA18552, NA18505
Known GenesPAK7
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307148
Frequency
Sample Size185
Observed Gain34
Observed Loss0
Observed Complex0
Frequencyn/a


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