A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196479



Internal ID6198295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45719986..45751040hg38UCSC Ensembl
Innerchr20:45720486..45750540hg38UCSC Ensembl
Outerchr20:45718986..45752040hg38UCSC Ensembl
chr20:44348625..44379679hg19UCSC Ensembl
Innerchr20:44349125..44379179hg19UCSC Ensembl
Outerchr20:44347625..44380679hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3831055
hg1931055
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645939
Supporting Variants
SamplesHG00261
Known GenesSPINT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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