A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16201885



Internal ID4650673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:52686764..52688199hg38UCSC Ensembl
Innerchr20:52686774..52688190hg38UCSC Ensembl
Outerchr20:52686755..52688209hg38UCSC Ensembl
chr20:51303303..51304738hg19UCSC Ensembl
Innerchr20:51303313..51304729hg19UCSC Ensembl
Outerchr20:51303294..51304748hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381436
hg191436
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646097
Supporting Variants
SamplesHG04180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16201885
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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