A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16179799



Internal ID3230111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36504123..36523264hg38UCSC Ensembl
Innerchr20:36504123..36523264hg38UCSC Ensembl
Outerchr20:36503623..36523764hg38UCSC Ensembl
chr20:35132526..35151667hg19UCSC Ensembl
Innerchr20:35132526..35151667hg19UCSC Ensembl
Outerchr20:35132026..35152167hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3819142
hg1919142
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645736
Supporting Variants
SamplesHG02840
Known GenesDLGAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16179799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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