A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662944



Internal ID9582363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8829365..8829569hg38UCSC Ensembl
chr17:8732682..8732886hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv534e199
Supporting Variantsessv5674963, essv5759884, essv5645212, essv6511240, essv6177290, essv6446133, essv5525009, essv5939502, essv5972223, essv6329084, essv5981207, essv6235262, essv6275014, essv6477743, essv5809656, essv5979098, essv6169415, essv6218268, essv5953956, essv6006915, essv6254738, essv5992631, essv6498717, essv6072771, essv6529487, essv5950185, essv5671044, essv6574983, essv6553630, essv5856803, essv5459520, essv5567514, essv6053402, essv5899670, essv5678808, essv5928504, essv5513586, essv6240044, essv6377666, essv5707842, essv5571769, essv6328160, essv6201560, essv5904593, essv6335492, essv5876031, essv5903539
SamplesNA19701, NA19648, NA11830, NA19700, NA11829, NA19704, NA18988, NA19005, NA18519, NA19916, NA18942, NA20540, NA19719, NA19722, NA19901, NA18520, NA18867, HG00464, HG00543, HG00133, NA19908, NA20787, NA19670, NA19717, NA18910, NA18871, NA19776, NA18566, NA18853, NA18553, HG00704, NA18541, HG00124, HG00119, NA19834, NA18559, NA19712, NA07051, NA12347, NA19818, NA19472, NA19716, NA19713, NA19213, NA19900, NA18989, NA18522
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662944
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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