A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5771098



Internal ID9564489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81210243..81215044hg38UCSC Ensembl
Outerchr16:81210206..81215094hg38UCSC Ensembl
Innerchr16:81243848..81248649hg19UCSC Ensembl
Outerchr16:81243811..81248699hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg384889
hg194889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2676623
Supporting Variants
SamplesNA19108
Known GenesPKD1L2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5771098
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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