A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16180424



Internal ID1353107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38278624..38301424hg38UCSC Ensembl
Innerchr20:38278624..38301424hg38UCSC Ensembl
Outerchr20:38278124..38301924hg38UCSC Ensembl
chr20:36907026..36929826hg19UCSC Ensembl
Innerchr20:36907026..36929826hg19UCSC Ensembl
Outerchr20:36906526..36930326hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3822801
hg1922801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645777
Supporting Variants
SamplesHG01190
Known GenesLOC149684
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16180424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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