A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639311



Internal ID7026094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81120941..81123631hg38UCSC Ensembl
Innerchr16:81120941..81123631hg38UCSC Ensembl
Outerchr16:81120732..81123862hg38UCSC Ensembl
chr16:81154546..81157236hg19UCSC Ensembl
Innerchr16:81154546..81157236hg19UCSC Ensembl
Outerchr16:81154337..81157467hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15535896, essv15535897
SamplesNA18561, NA19917
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639311
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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