A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218921



Internal ID6220737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:57517262..57517828hg38UCSC Ensembl
Innerchr20:57517263..57517828hg38UCSC Ensembl
Outerchr20:57517262..57517829hg38UCSC Ensembl
chr20:56092318..56092884hg19UCSC Ensembl
Innerchr20:56092319..56092884hg19UCSC Ensembl
Outerchr20:56092318..56092885hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646213
Supporting Variants
SamplesHG00146
Known GenesCTCFL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218921
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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