A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639893



Internal ID6679983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8808327..8810678hg38UCSC Ensembl
Innerchr17:8808328..8810678hg38UCSC Ensembl
Outerchr17:8808327..8810679hg38UCSC Ensembl
chr17:8711645..8713996hg19UCSC Ensembl
Innerchr17:8711646..8713996hg19UCSC Ensembl
Outerchr17:8711645..8713997hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382352
hg192352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15609358, essv15609346, essv15609354, essv15609351, essv15609362, essv15609364, essv15609348, essv15609355, essv15609359, essv15609350, essv15609356, essv15609347, essv15609343, essv15609349, essv15609342, essv15609365, essv15609361, essv15609345, essv15609363, essv15609366, essv15609353, essv15609352, essv15609360, essv15609357, essv15609344
SamplesHG02386, HG02026, NA18599, HG02078, NA18639, HG00879, NA18635, HG00634, HG02395, HG02512, HG02067, HG01813, HG01841, NA18525, HG01857, HG02397, HG01808, HG00463, HG02408, HG00445, HG01812, HG02133, HG02367, HG00421, HG01846
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639893
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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