A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15537702



Internal ID5733761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81210206..81215068hg38UCSC Ensembl
Innerchr16:81210221..81215053hg38UCSC Ensembl
Outerchr16:81210191..81215083hg38UCSC Ensembl
chr16:81243811..81248673hg19UCSC Ensembl
Innerchr16:81243826..81248658hg19UCSC Ensembl
Outerchr16:81243796..81248688hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384863
hg194863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639323
Supporting Variants
SamplesNA19108
Known GenesPKD1L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15537702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer