A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv534e199



Internal ID20123836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8829321..8829569hg38UCSC Ensembl
chr17:8732638..8732886hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2662944, esv2668980
SamplesNA19436, NA20787, NA19712, NA18520, NA18871, HG00464, NA12347, NA19401, NA19670, NA18541, NA19834, NA07051, NA19648, NA19701, NA19472, NA19776, HG00543, NA18559, NA18566, NA19900, NA19722, NA19908, NA19700, HG00133, NA19213, HG00124, NA19393, NA19716, NA18522, NA19005, NA19713, NA20540, NA19901, NA19704, NA18942, NA18988, NA19328, NA18910, NA20276, NA18867, NA18989, NA19719, NA19818, NA11830, NA19717, NA19916, NA11829, HG00119, NA18853, HG00704, NA18519, NA18553
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv534e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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