A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639312



Internal ID7026095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81125606..81131235hg38UCSC Ensembl
Innerchr16:81125606..81131235hg38UCSC Ensembl
Outerchr16:81125417..81131338hg38UCSC Ensembl
chr16:81159211..81164840hg19UCSC Ensembl
Innerchr16:81159211..81164840hg19UCSC Ensembl
Outerchr16:81159022..81164943hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg385630
hg195630
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15535898
SamplesHG01486
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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