A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218896



Internal ID2600955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57220830..57226489hg38UCSC Ensembl
Innerchr20:57220844..57226476hg38UCSC Ensembl
Outerchr20:57220817..57226503hg38UCSC Ensembl
chr20:55795886..55801545hg19UCSC Ensembl
Innerchr20:55795900..55801532hg19UCSC Ensembl
Outerchr20:55795873..55801559hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg385660
hg195660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646210
Supporting Variants
SamplesHG02307
Known GenesBMP7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218896
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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