A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196815



Internal ID6198631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:46616813..46646972hg38UCSC Ensembl
Innerchr20:46616963..46646822hg38UCSC Ensembl
Outerchr20:46616663..46647122hg38UCSC Ensembl
chr20:45245452..45275611hg19UCSC Ensembl
Innerchr20:45245602..45275461hg19UCSC Ensembl
Outerchr20:45245302..45275761hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3830160
hg1930160
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645957
Supporting Variants
SamplesNA18547
Known GenesSLC13A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196815
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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