A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8970785



Internal ID13757960
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 StatusS
Merged Variantsesv3410714
Supporting Variants
SamplesNA18498
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8970785
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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