A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16204584



Internal ID4701242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53535963..53547255hg38UCSC Ensembl
Innerchr20:53535969..53547249hg38UCSC Ensembl
Outerchr20:53535957..53547261hg38UCSC Ensembl
chr20:52152502..52163794hg19UCSC Ensembl
Innerchr20:52152508..52163788hg19UCSC Ensembl
Outerchr20:52152496..52163800hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3811293
hg1911293
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646114
Supporting Variants
SamplesHG04222
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16204584
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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