A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440912



Internal ID14941179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8828910..8829808hg38UCSC Ensembl
Innerchr17:8828909..8829809hg38UCSC Ensembl
Outerchr17:8827910..8830808hg38UCSC Ensembl
chr17:8732227..8733125hg19UCSC Ensembl
Innerchr17:8732226..8733126hg19UCSC Ensembl
Outerchr17:8731227..8734125hg19UCSC Ensembl
chr17:8672952..8673850hg18UCSC Ensembl
Innerchr17:8673851..8672951hg18UCSC Ensembl
Outerchr17:8671952..8674850hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691083
SamplesNA19239
Known GenesPIK3R6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440912
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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