A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410714



Internal ID15257674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81211433..81211450hg38UCSC Ensembl
Innerchr16:81211436..81211447hg38UCSC Ensembl
Outerchr16:81211419..81211464hg38UCSC Ensembl
chr16:81245038..81245055hg19UCSC Ensembl
Innerchr16:81245041..81245052hg19UCSC Ensembl
Outerchr16:81245024..81245069hg19UCSC Ensembl
chr16:79802539..79802556hg18UCSC Ensembl
Innerchr16:79802553..79802542hg18UCSC Ensembl
Outerchr16:79802525..79802570hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8970787, essv8970783, essv8970785, essv8970788, essv8970789, essv8970784, essv8970786
SamplesNA18504, NA18498, NA18499, NA19099, NA18858, NA18909, NA18517
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410714
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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