A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668684



Internal ID9588103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8829457..8829563hg38UCSC Ensembl
Outerchr17:8829408..8829662hg38UCSC Ensembl
Innerchr17:8732774..8732880hg19UCSC Ensembl
Outerchr17:8732725..8732979hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6019981, essv6184133, essv5862022, essv5679936, essv5907009, essv5608550, essv5823095, essv5538167, essv5645731, essv5581597, essv6333413, essv5514887, essv5833136, essv6239989, essv6081049, essv5997410, essv6235407, essv6280529, essv5708805
SamplesNA18550, NA20808, NA19004, NA18632, NA19443, NA20783, NA19256, NA19700, NA12778, NA20790, NA18486, HG00249, NA18942, NA19909, NA18867, NA12546, NA20804, NA20806, NA20772
Known GenesPIK3R6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668684
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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