A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16196283



Internal ID4555065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:45575405..45578675hg38UCSC Ensembl
Innerchr20:45575405..45578675hg38UCSC Ensembl
Outerchr20:45575090..45579050hg38UCSC Ensembl
chr20:44204044..44207314hg19UCSC Ensembl
Innerchr20:44204044..44207314hg19UCSC Ensembl
Outerchr20:44203729..44207689hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383271
hg193271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645935
Supporting Variants
SamplesHG04059
Known GenesWFDC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16196283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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