A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198917



Internal ID4371552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49726372..49727399hg38UCSC Ensembl
Innerchr20:49726504..49727349hg38UCSC Ensembl
Outerchr20:49726222..49727549hg38UCSC Ensembl
chr20:48342909..48343936hg19UCSC Ensembl
Innerchr20:48343041..48343886hg19UCSC Ensembl
Outerchr20:48342759..48344086hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646026
Supporting Variants
SamplesHG03899
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198917
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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