A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16173745



Internal ID6175561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32375726..32377830hg38UCSC Ensembl
Innerchr20:32375741..32377815hg38UCSC Ensembl
Outerchr20:32375711..32377845hg38UCSC Ensembl
chr20:30963529..30965633hg19UCSC Ensembl
Innerchr20:30963544..30965618hg19UCSC Ensembl
Outerchr20:30963514..30965648hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg382105
hg192105
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645664
Supporting Variants
SamplesHG03740
Known GenesASXL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16173745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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