A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107596



Internal ID6571852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:385214..399104hg38UCSC Ensembl
Innerchr20:385258..399060hg38UCSC Ensembl
Outerchr20:385170..399148hg38UCSC Ensembl
chr20:365858..379748hg19UCSC Ensembl
Innerchr20:365902..379704hg19UCSC Ensembl
Outerchr20:365814..379792hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3813891
hg1913891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644951
Supporting Variants
SamplesNA20760
Known GenesTRIB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107596
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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